NM_002242.4(KCNJ13):c.869C>T (p.Pro290Leu) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001923566.3
Allele description [Variation Report for NM_002242.4(KCNJ13):c.869C>T (p.Pro290Leu)]
NM_002242.4(KCNJ13):c.869C>T (p.Pro290Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
ClinVar for Gene (Select 197131) (1030)
ClinVar
-
Marmotini beta-acid glucosidase (GBA) gene, partial cds.
Marmotini beta-acid glucosidase (GBA) gene, partial cds.PopSet: 1035518411PopSet
-
PopSet Links for Protein (Select 1035518492) (1)
PopSet
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024