NM_000238.4(KCNH2):c.751C>T (p.Pro251Ser) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000684941.6
Allele description [Variation Report for NM_000238.4(KCNH2):c.751C>T (p.Pro251Ser)]
NM_000238.4(KCNH2):c.751C>T (p.Pro251Ser)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
phosphohydrolase [Staphylococcus equorum]
phosphohydrolase [Staphylococcus equorum]gi|948291521|gnl|PRJNA299343|SE1039 0|gb|ALM57883.1|Protein
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Last Updated: Sep 29, 2024