NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000570453.16
Allele description [Variation Report for NM_000051.4(ATM):c.6355G>T (p.Val2119Leu)]
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu)
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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Solute carrier family 25, member 28 [Mus musculus]
Solute carrier family 25, member 28 [Mus musculus]gi|19483946|gb|AAH25908.1|Protein
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POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [...
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Bos taurus]Gene ID:506551Gene
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uncultured Blautia sp. isolate 2789STDY5608880 genome assembly, contig: SCcontig...
uncultured Blautia sp. isolate 2789STDY5608880 genome assembly, contig: SCcontig000009, whole genome shotgun sequencegi|1052882413|emb|FMEU01000009.1|Nucleotide
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uncultured Blautia sp. isolate 2789STDY5608848 genome assembly, contig: SCcontig...
uncultured Blautia sp. isolate 2789STDY5608848 genome assembly, contig: SCcontig000006, whole genome shotgun sequencegi|1052899138|emb|FMFK01000006.1|Nucleotide
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uncultured Blautia sp. isolate 2789STDY5608880 genome assembly, contig: SCcontig...
uncultured Blautia sp. isolate 2789STDY5608880 genome assembly, contig: SCcontig000005, whole genome shotgun sequencegi|1052883023|emb|FMEU01000005.1|Nucleotide
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Last Updated: Oct 20, 2024