NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631709.4
Allele description [Variation Report for NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)]
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
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putative secreted protein [Streptomyces scabiei 87.22]
putative secreted protein [Streptomyces scabiei 87.22]gi|260645985|emb|CBG69076.1|Protein
-
RecName: Full=Valacyclovir hydrolase; Short=VACVase; Short=Valacyclovirase; AltN...
RecName: Full=Valacyclovir hydrolase; Short=VACVase; Short=Valacyclovirase; AltName: Full=Biphenyl hydrolase-like protein; AltName: Full=Biphenyl hydrolase-related protein; Short=Bph-rp; AltName: Full=Breast epithelial mucin-associated antigen; Short=MCNAA; Flags: Precursorgi|39931107|sp|Q86WA6.1|BPHL_HUMANProtein
-
LOC125599921 [Brassica napus]
LOC125599921 [Brassica napus]Gene ID:125599921Gene
-
AMT [Strigops habroptila]
AMT [Strigops habroptila]Gene ID:115614213Gene
-
LOC106439791 [Brassica napus]
LOC106439791 [Brassica napus]Gene ID:106439791Gene
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Last Updated: Jun 23, 2024