NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000554689.8
Allele description
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
Homo sapiens ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 (ATP2...
Homo sapiens ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 (ATP2A3), transcript variant 7, mRNAgi|1676318784|ref|NM_174958.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024