NM_005450.4(NOG):c.103C>T (p.Pro35Ser) AND Stapes ankylosis with broad thumb and toes
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2008
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000007095.3
Allele description
NM_005450.4(NOG):c.103C>T (p.Pro35Ser)
Condition(s)
- Name:
- Stapes ankylosis with broad thumb and toes
- Synonyms:
- ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY; STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM; TEUNISSEN-CREMERS SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MedGen: C1866656; Orphanet: 140917; OMIM: 184460
Assertion and evidence details
Last Updated: Feb 13, 2018