NM_001111.5(ADAR):c.478G>C (p.Asp160His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002755892.3
Allele description [Variation Report for NM_001111.5(ADAR):c.478G>C (p.Asp160His)]
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
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: Sep 29, 2024