NM_000238.4(KCNH2):c.1997T>C (p.Leu666Pro) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001934955.7
Allele description [Variation Report for NM_000238.4(KCNH2):c.1997T>C (p.Leu666Pro)]
NM_000238.4(KCNH2):c.1997T>C (p.Leu666Pro)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
CM3-MT0193-151200-569-b01 MT0193 Homo sapiens cDNA, mRNA sequence
CM3-MT0193-151200-569-b01 MT0193 Homo sapiens cDNA, mRNA sequencegi|12294430|gnl|dbEST|7475321|gb|BF 1.1|Nucleotide
-
CM2-NT0185-090101-587-h02 NT0185 Homo sapiens cDNA, mRNA sequence
CM2-NT0185-090101-587-h02 NT0185 Homo sapiens cDNA, mRNA sequencegi|14443773|gnl|dbEST|8803539|gb|BI 7.1|Nucleotide
-
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas frederiksbergensis]
4-hydroxybenzoyl-CoA thioesterase [Pseudomonas frederiksbergensis]gi|1132398167|gnl|PRJNA343270|PFAS1 5|gb|APV40322.1|Protein
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Last Updated: Oct 13, 2024