NM_018401.3(STK32B):c.869C>T (p.Ala290Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004246588.1
Allele description [Variation Report for NM_018401.3(STK32B):c.869C>T (p.Ala290Val)]
NM_018401.3(STK32B):c.869C>T (p.Ala290Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Pyruvate kinase; Short=PK
RecName: Full=Pyruvate kinase; Short=PKgi|290463271|sp|B0B7Q0.1|KPYK_CHLT2Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024