NM_006005.3(WFS1):c.1500C>T (p.Asn500=) AND Autosomal dominant nonsyndromic hearing loss 6
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294241.8
Allele description [Variation Report for NM_006005.3(WFS1):c.1500C>T (p.Asn500=)]
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
Condition(s)
- Name:
- Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL)
- Synonyms:
- DEAFNESS, AUTOSOMAL DOMINANT 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010963; MedGen: C1833021; Orphanet: 90635; OMIM: 600965
-
Chain E, Inner capsid protein VP2
Chain E, Inner capsid protein VP2gi|1890521670|pdb|6OJ4|EProtein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024