Variant ID: 8-101721447-T-G

NM_002568.3(PABPC1):c.1250A>C;(p.Gln417Pro)

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: PABPC1: Q417P
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000318607.5 c.1250A>C p.Gln417Pro missense_variant 9/15 -
ENST00000517403.1 c.209A>C p.Gln70Pro missense_variant 3/5 -
ENST00000518716.1 n.394A>C - non_coding_transcript_exon_variant 2/4 -
ENST00000519004.1 c.1115A>C p.Gln372Pro missense_variant 10/16 -
ENST00000519596.1 n.742+240A>C - intron_variant,non_coding_transcript_variant - 5/5
ENST00000519622.1 c.*190A>C - 3_prime_UTR_variant,NMD_transcript_variant 6/6 -
ENST00000522387.1 c.1154A>C p.Gln385Pro missense_variant 10/16 -
ENST00000523636.1 c.323A>C p.Gln108Pro missense_variant,NMD_transcript_variant 3/7 -
NM_002568.4 c.1250A>C p.Gln417Pro missense_variant 9/15 -