NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018560.41
Allele description [Variation Report for NM_004004.6(GJB2):c.250G>C (p.Val84Leu)]
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
- Synonyms:
- Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290
-
Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA
Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNAgi|238776791|ref|NM_031905.3|Nucleotide
-
Homo sapiens hypothetical protein MGC3195 (MGC3195), mRNA
Homo sapiens hypothetical protein MGC3195 (MGC3195), mRNAgi|13994265|ref|NM_031905.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024