NM_000051.4(ATM):c.2143C>G (p.Leu715Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186652.7
Allele description [Variation Report for NM_000051.4(ATM):c.2143C>G (p.Leu715Val)]
NM_000051.4(ATM):c.2143C>G (p.Leu715Val)
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
-
Homo sapiens intersectin 1 (ITSN1), transcript variant 2, mRNA
Homo sapiens intersectin 1 (ITSN1), transcript variant 2, mRNAgi|1675158020|ref|NM_001001132.2|Nucleotide
-
intersectin-1 isoform X11 [Homo sapiens]
intersectin-1 isoform X11 [Homo sapiens]gi|1034627490|ref|XP_016883927.1|Protein
-
PREDICTED: Homo sapiens intersectin 1 (ITSN1), transcript variant X21, mRNA
PREDICTED: Homo sapiens intersectin 1 (ITSN1), transcript variant X21, mRNAgi|2462583126|ref|XM_054324781.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024