NM_000458.4(HNF1B):c.1138del (p.Val380fs) AND Renal cysts and diabetes syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000787089.2
Allele description
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
Condition(s)
- Name:
- Renal cysts and diabetes syndrome (RCAD)
- Synonyms:
- Maturity-onset diabetes of the young, type 5; MODY type 5; Hyperuricemic nephropathy, familial juvenile, atypical; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007669; MedGen: C0431693; Orphanet: 93111; OMIM: 137920
-
Homo sapiens cDNA FLJ55902 complete cds
Homo sapiens cDNA FLJ55902 complete cdsgi|194390917|dbj|AK298327.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024