NM_000335.5(SCN5A):c.*131G>A AND Dilated cardiomyopathy 1E
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001145461.5
Allele description [Variation Report for NM_000335.5(SCN5A):c.*131G>A]
NM_000335.5(SCN5A):c.*131G>A
Condition(s)
-
RecName: Full=N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3; ...
RecName: Full=N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3; AltName: Full=Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; AltName: Full=Beta-1,3-galactosyltransferase 8; Short=Beta-1,3-GalTase 8; Short=Beta3Gal-T8; Short=Beta3GalT8; Short=b3Gal-T8; AltName: Full=Beta-3-Gx-T8; AltName: Full=Core 1 extending beta-1,3-N-acetylglucosaminyltransferase; AltName: Full=Core1-beta3GlcNAcT; AltName: Full=Transmembrane protein 3; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8; AltName: Full=UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3; Short=BGnT-3; Short=Beta-1,3-Gn-T3; Short=Beta-1,3-N-acetylglucosaminyltransferase 3; Short=Beta3Gn-T3; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8gi|311033352|sp|Q9Y2A9.2|B3GN3_HUMAProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 29, 2023