Annotation Detail
Information
- Associated Genes
- HERC2
- Associated Variants
-
HERC2 c.7617+4A>C
(
ENST00000261609.13 )
HERC2 c.7617+4A>C ( ENST00000261609.13 ) - Associated Disease
- Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6
- Source Database
- ClinVar
- Description
- NM_004667.6(HERC2):c.7617+4A>C AND multiple conditions
- ClinVar Allele ID
- 576167
- ClinVar RefSeq Alternation Syntax
- NM_004667.6:c.7617+4A>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000509517
- ClinVar Disease
- Wolfram syndrome 1
- ClinVar Disease
- Wolfram-like syndrome
- ClinVar Disease
- Autosomal dominant nonsyndromic hearing loss 6
- Observed Origin Sample
- germline
Drugs