NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) AND Renal cysts and diabetes syndrome
- Germline classification:
- Uncertain significance (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:
- RCV000787256.5
Allele description [Variation Report for NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)]
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
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
-
Myristylated entry/fusion protein [Eptesipox virus]
Myristylated entry/fusion protein [Eptesipox virus]gi|1237089681|ref|YP_009408014.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024