NM_000551.4(VHL):c.397A>C (p.Thr133Pro) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 6, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000492347.3
Allele description [Variation Report for NM_000551.4(VHL):c.397A>C (p.Thr133Pro)]
NM_000551.4(VHL):c.397A>C (p.Thr133Pro)
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
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Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA
Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNAgi|1519473587|ref|NM_024816.3|Nucleotide
-
602569723F1 NIH_MGC_77 Homo sapiens cDNA clone IMAGE:4694212 5', mRNA sequence
602569723F1 NIH_MGC_77 Homo sapiens cDNA clone IMAGE:4694212 5', mRNA sequencegi|13534063|gnl|dbEST|8248437|gb|BG 0.1|Nucleotide
-
AL568422 Homo sapiens PLACENTA Homo sapiens cDNA clone CS0DE001YN18 3-PRIME, mRN...
AL568422 Homo sapiens PLACENTA Homo sapiens cDNA clone CS0DE001YN18 3-PRIME, mRNA sequencegi|46234794|gnl|dbEST|22316591|emb| 422.3|Nucleotide
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Last Updated: May 1, 2024