NM_006005.3(WFS1):c.-148G>T AND Autosomal dominant nonsyndromic hearing loss 6
- Germline classification:
- Likely benign (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:
- RCV001155156.4
Allele description [Variation Report for NM_006005.3(WFS1):c.-148G>T]
NM_006005.3(WFS1):c.-148G>T
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
-
zinc finger protein 420 isoform X3 [Homo sapiens]
zinc finger protein 420 isoform X3 [Homo sapiens]gi|2462563146|ref|XP_054175886.1|Protein
-
Chain Z, 40S ribosomal protein S24
Chain Z, 40S ribosomal protein S24gi|2270388918|pdb|7SYU|ZProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023