Variant ID: 11-126242147-T-G

NM_006278.3(ST3GAL4):c.-61+15950T>G

This variant was identified in 1 publication




Publications:


Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: rs4055111
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227495.6 c.-61+16410T>G - intron_variant - 1/10
ENST00000356132.4 c.-61+16410T>G - intron_variant - 1/10
ENST00000444328.2 c.-61+16410T>G - intron_variant - 1/10
ENST00000530591.1 c.-61+15950T>G - intron_variant - 1/10
ENST00000531217.1 c.-61+16410T>G - intron_variant,NMD_transcript_variant - 1/9
ENST00000534083.1 c.-61+15950T>G - intron_variant - 1/10
ENST00000534733.2 c.87+13741T>G - intron_variant,NMD_transcript_variant - 2/4
NM_001254757.2 c.-61+16410T>G - intron_variant - 1/10
NM_001348396.2 c.3+13904T>G - intron_variant - 2/11
NM_001348397.2 c.3+13904T>G - intron_variant - 2/11
NM_001348398.2 c.-61+16410T>G - intron_variant - 1/10
NM_001348399.2 c.-61+15950T>G - intron_variant - 1/10
NM_001348400.2 c.-61+16410T>G - intron_variant - 1/10
NM_006278.3 c.-61+15950T>G - intron_variant - 1/10
NR_145671.2 n.157+16410T>G - intron_variant,non_coding_transcript_variant - 1/10