NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) AND Autosomal dominant polycystic liver disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001844861.1
Allele description [Variation Report for NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)]
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)
Condition(s)
- Name:
- Autosomal dominant polycystic liver disease
- Synonyms:
- Isolated polycystic liver disease; Isolated autosomal dominant polycystic liver disease; Congenital cystic disease of liver; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000447; MedGen: C0158683; OMIM: PS174050; Human Phenotype Ontology: HP:0006557
-
serine/arginine-rich splicing factor 10 isoform 1 [Mus musculus]
serine/arginine-rich splicing factor 10 isoform 1 [Mus musculus]gi|6753820|ref|NP_034308.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024