NM_000535.7(PMS2):c.33del (p.Ala12fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000657458.1
Allele description [Variation Report for NM_000535.7(PMS2):c.33del (p.Ala12fs)]
NM_000535.7(PMS2):c.33del (p.Ala12fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
HVCN1 hydrogen voltage gated channel 1 [Homo sapiens]
HVCN1 hydrogen voltage gated channel 1 [Homo sapiens]Gene ID:84329Gene
-
Gene Links for GEO Profiles (Select 121519284) (1)
Gene
-
Gene Links for GEO Profiles (Select 121523170) (1)
Gene
-
PPTC7 protein phosphatase targeting COQ7 [Homo sapiens]
PPTC7 protein phosphatase targeting COQ7 [Homo sapiens]Gene ID:160760Gene
-
OMIM Links for GEO Profiles (Select 119588113) (2)
OMIM
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023