NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) 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:
- RCV001844814.1
Allele description [Variation Report for NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)]
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
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
-
non-heme iron oxygenase ferredoxin subunit [Pseudomonas taeanensis]
non-heme iron oxygenase ferredoxin subunit [Pseudomonas taeanensis]gi|1179969484|ref|WP_083491838.1|Protein
-
Homo sapiens chromosome X genomic contig, GRCh38 reference primary assembly
Homo sapiens chromosome X genomic contig, GRCh38 reference primary assemblygi|568335427|gnl|ASM:GCA_000001305. HRX_CTG12|gb|GL000169.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024