NM_004004.6(GJB2):c.174A>G (p.Pro58=) AND Autosomal recessive nonsyndromic hearing loss 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109878.4
Allele description [Variation Report for NM_004004.6(GJB2):c.174A>G (p.Pro58=)]
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
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
-
voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X2 [Drosophila...
voltage-dependent calcium channel subunit alpha-2/delta-3 isoform X2 [Drosophila mauritiana]gi|1829481085|ref|XP_033151878.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024