NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- May 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001024799.11
Allele description [Variation Report for NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)]
NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)
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
-
fatty acid desaturase 1 [Homo sapiens]
fatty acid desaturase 1 [Homo sapiens]gi|11181775|ref|NP_037534.2|Protein
-
17000600069567 GRN_PREHEP Homo sapiens cDNA 5', mRNA sequence
17000600069567 GRN_PREHEP Homo sapiens cDNA 5', mRNA sequencegi|47291737|gnl|dbEST|22436462|gb|C 23.1|Nucleotide
-
Rattus norvegicus TL0AEA56YF22 mRNA sequence
Rattus norvegicus TL0AEA56YF22 mRNA sequencegi|298902283|emb|FQ235128.1|Nucleotide
-
HS6ST2 [Callithrix jacchus]
HS6ST2 [Callithrix jacchus]Gene ID:100398118Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024