NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) AND Congenital long QT syndrome
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000058734.11
Allele description [Variation Report for NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)]
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
Condition(s)
-
RecName: Full=Metal transporter CNNM2; AltName: Full=Ancient conserved domain-co...
RecName: Full=Metal transporter CNNM2; AltName: Full=Ancient conserved domain-containing protein 2; AltName: Full=Cyclin-M2gi|156631023|sp|Q9H8M5.2|CNNM2_HUMAProtein
-
RecName: Full=Integrin alpha-IIb; AltName: Full=GPalpha IIb; Short=GPIIb; AltNam...
RecName: Full=Integrin alpha-IIb; AltName: Full=GPalpha IIb; Short=GPIIb; AltName: Full=Platelet membrane glycoprotein IIb; AltName: CD_antigen=CD41; Contains: RecName: Full=Integrin alpha-IIb heavy chain; Contains: RecName: Full=Integrin alpha-IIb light chain; Flags: Precursorgi|341940843|sp|Q9QUM0.2|ITA2B_MOUSProtein
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Last Updated: Oct 13, 2024