WAC Chromosome 10
WW domain containing adaptor with coiled-coil
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What This Gene Does
The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Associated Conditions (14)
Inborn genetic diseases
DeSanto-Shinawi syndrome due to WAC point mutation
WAC-related disorder
Acute myeloid leukemia
Neurodevelopmental disorder
Nonpapillary renal cell carcinoma
Papillary renal cell carcinoma type 1
WAC-related neurodevelopmental disorder
See cases
DeSanto-Shinawi syndrome
Neurodevelopmental delay
Rare genetic intellectual disability
Intellectual disability
Neurodevelopmental abnormality
Key Variants
RS140693511
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1564400647
Conflicting classifications of pathogenicity
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS1589115549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200849182
Conflicting classifications of pathogenicity
Inborn genetic diseases, WAC-related disorder, Inborn genetic diseases
Health Risk
RS2132669331
Conflicting classifications of pathogenicity
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS2492190902
Conflicting classifications of pathogenicity
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS374821442
Conflicting classifications of pathogenicity
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS771021206
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS936481046
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554791975
Likely pathogenic
DeSanto-Shinawi syndrome due to WAC point mutation, Acute myeloid leukemia, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS1836464000
Likely pathogenic
DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
Health Risk
RS1841399401
Likely pathogenic
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132308307 | Health Risk | Pathogenic | — |
| RS2132669206 | Health Risk | Pathogenic | — |
| RS2132809028 | Health Risk | Pathogenic | — |
| RS2132825843 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2132833694 | Health Risk | Pathogenic | See cases, See cases |
| RS2132833820 | Health Risk | Pathogenic | — |
| RS2132852801 | Health Risk | Pathogenic | See cases, See cases |
| RS2132853185 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2132862248 | Health Risk | Pathogenic | — |
| RS2132862551 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome, DeSanto-Shinawi syndrome |
| RS2132863198 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2132872003 | Health Risk | Pathogenic | — |
| RS2491536548 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2491536745 | Health Risk | Pathogenic | — |
| RS2491926489 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2491926757 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2491927082 | Health Risk | Pathogenic | — |
| RS2491927303 | Health Risk | Pathogenic | — |
| RS2491966303 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2491966403 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2492159830 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2492160147 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2492191425 | Health Risk | Pathogenic | WAC-related disorder, WAC-related disorder |
| RS2492226248 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2492226994 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS2492227270 | Health Risk | Pathogenic | — |
| RS368543869 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS754451905 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321634 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321689 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, Inborn genetic diseases, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321690 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321691 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321692 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, Inborn genetic diseases, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS864321693 | Health Risk | Pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS886041614 | Health Risk | Pathogenic | Rare genetic intellectual disability, DeSanto-Shinawi syndrome due to WAC point mutation, Rare genetic intellectual disability |
| RS886041640 | Health Risk | Pathogenic | — |
| RS886041891 | Health Risk | Pathogenic | — |
| RS963822803 | Health Risk | Pathogenic | — |
| RS1057524482 | Health Risk | Pathogenic/Likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS1064796758 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1085307480 | Health Risk | Pathogenic/Likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, Intellectual disability, Neurodevelopmental abnormality |
| RS1554791124 | Health Risk | Pathogenic/Likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |
| RS774496658 | Health Risk | Pathogenic/Likely pathogenic | DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation |