NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) AND Knuckle pads, deafness AND leukonychia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018562.28
Allele description [Variation Report for NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)]
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)
Condition(s)
-
Protein Links for Gene (Select 64224) (22)
Protein
-
PREDICTED: Homo sapiens HERPUD family member 2 (HERPUD2), transcript variant X3,...
PREDICTED: Homo sapiens HERPUD family member 2 (HERPUD2), transcript variant X3, mRNAgi|2217368104|ref|XM_006715765.3|Nucleotide
-
"1218367-40-8"[CompleteSynonym] (1)
PubChem Compound
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024