FERMT1 Chromosome 20

FERM domain containing kindlin 1
51 variants 51 Health Risk

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What This Gene Does
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Fermitins|Pleckstrin homology domain containing|FERM domain containing"
Locus Type
gene with protein product
Location
20p12.3
Ensembl
ENSG00000101311
Associated Conditions (4)
Kindler syndrome
Inborn genetic diseases
FERMT1-related disorder
Abnormality of the skin
Key Variants
RS138986656
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS142825013
Conflicting classifications of pathogenicity
Kindler syndrome, Inborn genetic diseases, Kindler syndrome
Health Risk
RS150528781
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS184046854
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS201694674
Conflicting classifications of pathogenicity
Kindler syndrome, FERMT1-related disorder, Kindler syndrome
Health Risk
RS2232078
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS550863008
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS570732725
Conflicting classifications of pathogenicity
Kindler syndrome, FERMT1-related disorder, Kindler syndrome
Health Risk
RS6053893
Conflicting classifications of pathogenicity
Kindler syndrome, FERMT1-related disorder, Kindler syndrome
Health Risk
RS749711628
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
RS751558324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754424986
Conflicting classifications of pathogenicity
Kindler syndrome, Kindler syndrome
Health Risk
All Variants (51)
RSID Category Clinical Significance Conditions
RS869312721 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
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