NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) AND Rare genetic deafness
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000150733.5
Allele description [Variation Report for NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)]
NM_004004.6(GJB2):c.176G>A (p.Gly59Asp)
Condition(s)
-
N-sulphoglucosamine sulphohydrolase isoform 1 precursor [Homo sapiens]
N-sulphoglucosamine sulphohydrolase isoform 1 precursor [Homo sapiens]gi|4506919|ref|NP_000190.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023