NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002381243.9
Allele description [Variation Report for NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)]
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
ATP5PB ATP synthase peripheral stalk-membrane subunit b [Homo sapiens]
ATP5PB ATP synthase peripheral stalk-membrane subunit b [Homo sapiens]Gene ID:515Gene
-
Gene Links for GEO Profiles (Select 64928676) (1)
Gene
-
NME1 NME/NM23 nucleoside diphosphate kinase 1 [Homo sapiens]
NME1 NME/NM23 nucleoside diphosphate kinase 1 [Homo sapiens]Gene ID:4830Gene
-
Gene Links for GEO Profiles (Select 64918626) (1)
Gene
-
Gene Links for GEO Profiles (Select 64928842) (2)
Gene
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Last Updated: Oct 8, 2024