IGHMBP2 Chromosome 11
Immunoglobulin mu DNA binding protein 2
Upload your DNA to see your personal genotypes for variants in IGHMBP2.
What This Gene Does
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers AN1-type|UPF1 like RNA helicases"
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000132740
Associated Conditions (33)
Lower limb muscle weakness
Difficulty walking
Inability to walk
Hammertoe
Progressive muscle weakness
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Inborn genetic diseases
Charcot-Marie-Tooth disease
Neuronopathy
distal hereditary motor
autosomal dominant
IGHMBP2-related disorder
Uterine corpus endometrial carcinoma
Cervical cancer
Sarcoma
Acute myeloid leukemia
Distal spinal muscular atrophy
Thyroid cancer
nonmedullary
+13 more conditions
Key Variants
RS1057518943
Conflicting classifications of pathogenicity
Lower limb muscle weakness, Difficulty walking, Inability to walk
Health Risk
RS112495985
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS112870015
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS117995705
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS1193634362
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS1281690554
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS1347461335
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal dominant
Health Risk
RS138327042
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
Health Risk
RS138607722
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Inborn genetic diseases
Health Risk
RS139207271
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease
Health Risk
RS139237340
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
RS139497493
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
Health Risk
All Variants (252)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886043773 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S |
| RS972425138 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |