Annotation Detail
Information
- Associated Genes
- GJB6
- Associated Variants
-
GJB6 p.Arg143Gln (p.R143Q)
(
ENST00000647243.1,
ENST00000647029.1,
ENST00000644283.1,
ENST00000643211.1,
ENST00000241124.11,
ENST00000643121.1,
ENST00000644667.1,
ENST00000400065.7,
ENST00000636852.1,
ENST00000400066.8 )
GJB6 p.Arg143Gln (p.R143Q) ( ENST00000241124.11, ENST00000400065.7, ENST00000400066.8, ENST00000636852.1, ENST00000643121.1, ENST00000643211.1, ENST00000644283.1, ENST00000644667.1, ENST00000647029.1, ENST00000647243.1 ) - Associated Disease
- Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome
- Source Database
- ClinVar
- Description
- NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) AND multiple conditions
- ClinVar Allele ID
- 1421868
- ClinVar RefSeq Alternation Syntax
- NM_001110220.3:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370090.1:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370091.1:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_006783.5:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370092.1:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_001110221.3:c.428G>A
- ClinVar RefSeq Alternation Syntax
- NM_001110219.3:c.428G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001909862
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1B
- ClinVar Disease
- Autosomal recessive nonsyndromic hearing loss 1A
- ClinVar Disease
- Autosomal dominant nonsyndromic hearing loss 3B
- ClinVar Disease
- Hidrotic ectodermal dysplasia syndrome
- Observed Origin Sample
- germline
Drugs