NM_000535.7(PMS2):c.314G>A (p.Gly105Asp) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000629739.9
Allele description [Variation Report for NM_000535.7(PMS2):c.314G>A (p.Gly105Asp)]
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
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cytochrome c oxidase subunit 1, partial (mitochondrion) [Protospirella mazurica]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Protospirella mazurica]gi|2452232510|gb|WEF39115.1|Protein
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UNVERIFIED: Prunus africana RNase (S) gene, S10 allele, partial sequence
UNVERIFIED: Prunus africana RNase (S) gene, S10 allele, partial sequencegi|1018960378|gb|KT985624.1|Nucleotide
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transaldolase [Diaphanosoma celebensis]
transaldolase [Diaphanosoma celebensis]gi|2519849307|gb|WIW77571.1|Protein
-
RIP protein kinase [Homo sapiens]
RIP protein kinase [Homo sapiens]gi|3426027|gb|AAC32232.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024