NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) AND Hearing loss
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 2, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678885.9
Allele description [Variation Report for NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)]
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
Condition(s)
- Name:
- Hearing loss
- Identifiers:
- MedGen: C3887873
-
alpha/beta hydrolase [Streptococcus macedonicus]
alpha/beta hydrolase [Streptococcus macedonicus]gi|504060959|ref|WP_014294953.1|Protein
-
serine/threonine-protein kinase Nek4 isoform X5 [Homo sapiens]
serine/threonine-protein kinase Nek4 isoform X5 [Homo sapiens]gi|767924107|ref|XP_011532342.1|Protein
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Last Updated: Sep 29, 2024