NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000181834.5
Allele description [Variation Report for NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)]
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens TBC1 domain family member 22A (TBC1D22A), transcript var...
PREDICTED: Homo sapiens TBC1 domain family member 22A (TBC1D22A), transcript variant X5, mRNAgi|2462584541|ref|XM_054325469.1|Nucleotide
-
Wasl WASP like actin nucleation promoting factor [Mus musculus]
Wasl WASP like actin nucleation promoting factor [Mus musculus]Gene ID:73178Gene
-
73178[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024