NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro) AND Autosomal dominant polycystic liver disease
- Germline classification:
- Likely pathogenic (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:
- RCV001844958.1
Allele description [Variation Report for NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)]
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)
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
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ov77h06.x1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:1643387 3', mRNA sequ...
ov77h06.x1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:1643387 3', mRNA sequencegi|3280409|gnl|dbEST|1780550|gb|AI0 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023