NM_001111.5(ADAR):c.*1104T>C AND Symmetrical dyschromatosis of extremities
- Germline classification:
- Uncertain significance (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:
- RCV000387349.5
Allele description [Variation Report for NM_001111.5(ADAR):c.*1104T>C]
NM_001111.5(ADAR):c.*1104T>C
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
-
chromodomain-helicase-DNA-binding protein 1 isoform 1 [Homo sapiens]
chromodomain-helicase-DNA-binding protein 1 isoform 1 [Homo sapiens]gi|1396658734|ref|NP_001351042.1|Protein
-
matrix metalloproteinase-9 preproprotein [Mus musculus]
matrix metalloproteinase-9 preproprotein [Mus musculus]gi|7305277|ref|NP_038627.1|Protein
-
Congenital disorder of glycosylation, type IIaa
Congenital disorder of glycosylation, type IIaaMedGen
-
Agenesis of central incisor
Agenesis of central incisorMedGen
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Last Updated: Apr 9, 2023