NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487621.3
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
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
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serine hydroxymethyltransferase 7-like [Cucurbita moschata]
serine hydroxymethyltransferase 7-like [Cucurbita moschata]gi|1279776524|ref|XP_022941000.1|Protein
-
PREDICTED: cytochrome b561 domain-containing protein At4g18260-like [Prunus mume...
PREDICTED: cytochrome b561 domain-containing protein At4g18260-like [Prunus mume]gi|645237989|ref|XP_008225466.1|Protein
-
hypothetical protein VITISV_028513 [Vitis vinifera]
hypothetical protein VITISV_028513 [Vitis vinifera]gi|147852210|emb|CAN80139.1|Protein
-
pectinesterase 2 [Cucumis sativus]
pectinesterase 2 [Cucumis sativus]gi|778657958|ref|XP_004152582.2|Protein
-
chloroplastic import inner membrane translocase subunit HP30-2-like [Malus domes...
chloroplastic import inner membrane translocase subunit HP30-2-like [Malus domestica]gi|657945823|ref|XP_008381679.1|Protein
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Last Updated: Sep 29, 2024