DIAPH3 Chromosome 13
Diaphanous related formin 3
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What This Gene Does
This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
13q21.2
Ensembl
ENSG00000139734
Associated Conditions (4)
DIAPH3-related disorder
Autosomal dominant auditory neuropathy 1
Familial cancer of breast
Hearing impairment
Key Variants
RS1199116344
Conflicting classifications of pathogenicity
Health Risk
RS188721921
Conflicting classifications of pathogenicity
Health Risk
RS199556306
Conflicting classifications of pathogenicity
Health Risk
RS199814282
Conflicting classifications of pathogenicity
DIAPH3-related disorder, DIAPH3-related disorder
Health Risk
RS200018583
Conflicting classifications of pathogenicity
Autosomal dominant auditory neuropathy 1, DIAPH3-related disorder, Autosomal dominant auditory neuropathy 1
Health Risk
RS200189161
Conflicting classifications of pathogenicity
Health Risk
RS200231889
Conflicting classifications of pathogenicity
Health Risk
RS200291290
Conflicting classifications of pathogenicity
Health Risk
RS200774224
Conflicting classifications of pathogenicity
Autosomal dominant auditory neuropathy 1, Autosomal dominant auditory neuropathy 1
Health Risk
RS200839105
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast
Health Risk
RS201517886
Conflicting classifications of pathogenicity
DIAPH3-related disorder, DIAPH3-related disorder
Health Risk
RS202198529
Conflicting classifications of pathogenicity
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1199116344 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS188721921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199556306 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199814282 | Health Risk | Conflicting classifications of pathogenicity | DIAPH3-related disorder, DIAPH3-related disorder |
| RS200018583 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant auditory neuropathy 1, DIAPH3-related disorder, Autosomal dominant auditory neuropathy 1 |
| RS200189161 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200231889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200291290 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200774224 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant auditory neuropathy 1, Autosomal dominant auditory neuropathy 1 |
| RS200839105 | Health Risk | Conflicting classifications of pathogenicity | Familial cancer of breast, Familial cancer of breast |
| RS201517886 | Health Risk | Conflicting classifications of pathogenicity | DIAPH3-related disorder, DIAPH3-related disorder |
| RS202198529 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2138509335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372502709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373421558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746390263 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS754642174 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760815388 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS76626460 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79255785 | Health Risk | Conflicting classifications of pathogenicity | DIAPH3-related disorder, DIAPH3-related disorder |
| RS2050261564 | Health Risk | Pathogenic | Autosomal dominant auditory neuropathy 1, Autosomal dominant auditory neuropathy 1 |