NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu) AND Short QT syndrome type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002247459.2
Allele description [Variation Report for NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)]
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024