NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 7, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000491067.4
Allele description [Variation Report for NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)]
NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)
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 genomic DNA, chromosome 22q11.2, Cat Eye Syndrome region, clone:N64...
Homo sapiens genomic DNA, chromosome 22q11.2, Cat Eye Syndrome region, clone:N64E9gi|5931504|dbj|AP000526.1|Nucleotide
-
Homo sapiens sulfiredoxin 1 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4425...
Homo sapiens sulfiredoxin 1 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4425440), partial cdsgi|16877493|gb|BC017001.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024