NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000696062.6
Allele description [Variation Report for NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)]
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
THEM4 thioesterase superfamily member 4 [Homo sapiens]
THEM4 thioesterase superfamily member 4 [Homo sapiens]Gene ID:117145Gene
-
Gene Links for GEO Profiles (Select 8309653) (1)
Gene
-
PSMB4 proteasome 20S subunit beta 4 [Homo sapiens]
PSMB4 proteasome 20S subunit beta 4 [Homo sapiens]Gene ID:5692Gene
-
Gene Links for GEO Profiles (Select 8308521) (1)
Gene
-
Skeletal myoblast cell line KM109 differentiation: time course (I)
Skeletal myoblast cell line KM109 differentiation: time course (I)Accession: GDS942GEO DataSets
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Last Updated: Sep 29, 2024