NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser) AND Symmetrical dyschromatosis of extremities
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015943.25
Allele description [Variation Report for NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)]
NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)
Condition(s)
- Name:
- Symmetrical dyschromatosis of extremities (DSH)
- Synonyms:
- Dyschromatosis symmetrica hereditaria 1; Dyschromatosis symmetrica hereditaria; Familial reticulate acropigmentation of Dohi; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007483; MedGen: C0406775; Orphanet: 41; OMIM: 127400
Assertion and evidence details
Last Updated: Apr 23, 2022