NM_000238.4(KCNH2):c.50C>T (p.Thr17Ile) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001974163.7
Allele description [Variation Report for NM_000238.4(KCNH2):c.50C>T (p.Thr17Ile)]
NM_000238.4(KCNH2):c.50C>T (p.Thr17Ile)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Homo sapiens cDNA clone IMAGE:6157023, partial cds
Homo sapiens cDNA clone IMAGE:6157023, partial cdsgi|40807096|gb|BC065263.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024