NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003159024.3
Allele description [Variation Report for NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His)]
NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His)
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
-
Human DNA sequence from clone RP11-470J20 on chromosome 9, complete sequence
Human DNA sequence from clone RP11-470J20 on chromosome 9, complete sequencegi|16508197|emb|AL353598.12|Nucleotide
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blood group Rh(D) polypeptide isoform 1 [Homo sapiens]
blood group Rh(D) polypeptide isoform 1 [Homo sapiens]gi|2027317183|ref|NP_057208.3|Protein
-
glycogen/starch synthase [Sporocytophaga myxococcoides]
glycogen/starch synthase [Sporocytophaga myxococcoides]gi|655908487|ref|WP_028978732.1|Protein
-
RecName: Full=IQ domain-containing protein E
RecName: Full=IQ domain-containing protein Egi|145566781|sp|Q6IPM2.2|IQCE_HUMANProtein
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Last Updated: Sep 1, 2024