INF2 Chromosome 14

Inverted formin 2
215 variants 1 Drug Response 214 Health Risk

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What This Gene Does
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000203485
Associated Conditions (15)
Corticosteroids response
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Lymphoma
Inborn genetic diseases
Kidney disorder
INF2-related disorder
Melanoma
Nephrotic syndrome
Hepatocellular carcinoma
Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis
Proteinuria
Renal insufficiency
Hypertensive disorder
Key Variants
RS2140672369
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1001885245
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1032255653
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1035033414
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1064796974
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS115602636
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Lymphoma
Health Risk
RS1156240396
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1208616690
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1249742050
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1249757355
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1279137766
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1356183663
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
Health Risk
All Variants (215)
RSID Category Clinical Significance Conditions
RS2140672369 Drug Response drug response Corticosteroids response, Corticosteroids response
RS1001885245 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1032255653 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1035033414 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1064796974 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS115602636 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Lymphoma
RS1156240396 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1208616690 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1249742050 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1249757355 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1279137766 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1356183663 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS1364540701 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS1364649058 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1375222598 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS1385146569 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1420347614 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Kidney disorder
RS1442200771 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS1453391298 Health Risk Conflicting classifications of pathogenicity INF2-related disorder, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1461056808 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS1473555311 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1473568112 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS1566777566 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS181694819 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS184709736 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS186326868 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1889499325 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS189559257 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS199526439 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS199640596 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS199979156 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS200155666 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS200246759 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS200261709 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS200713451 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS200823300 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS201091360 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS201292830 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS201715539 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS2140671935 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2504243195 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS368298329 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS368372551 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS368569489 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS368576387 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Kidney disorder
RS368869709 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS368948089 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS368995122 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS369984449 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS369987125 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
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