NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000805404.9
Allele description [Variation Report for NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)]
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)
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
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Homo sapiens PRO1905 mRNA, complete cds
Homo sapiens PRO1905 mRNA, complete cdsgi|7959842|gb|AF116672.1|Nucleotide
-
Ictalurus punctatus a disintegrin and metalloproteinase domain 8 mRNA, complete ...
Ictalurus punctatus a disintegrin and metalloproteinase domain 8 mRNA, complete cdsgi|222476510|gb|FJ594762.1|Nucleotide
-
D-glycerate dehydrogenase [Luteitalea sp. TBR-22]
D-glycerate dehydrogenase [Luteitalea sp. TBR-22]gi|1968804221|dbj|BCS31486.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024