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
-
Microbe sample from Pectobacterium versatile
Microbe sample from Pectobacterium versatilebiosample
-
Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNA
Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNAgi|1890266151|ref|NM_001171988.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024