Variant ID: 2-118854221-T-C

NM_016133.2(INSIG2):c.89T>C;(p.Ile30Thr)

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: INSIG2: 89T>C; I30T
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000245787.4 c.89T>C p.Ile30Thr missense_variant 2/6 -
ENST00000411929.1 c.-114-6552T>C - intron_variant,NMD_transcript_variant - 1/4
ENST00000467223.1 n.125+219T>C - intron_variant,non_coding_transcript_variant - 2/5
ENST00000471186.1 n.69-6552T>C - intron_variant,non_coding_transcript_variant - 1/3
ENST00000485520.1 n.76+219T>C - intron_variant,non_coding_transcript_variant - 2/5
NM_001321329.1 c.89T>C p.Ile30Thr missense_variant 2/6 -
NM_001321330.1 c.-80-6552T>C - intron_variant - 1/4
NM_001321331.1 c.-81+219T>C - intron_variant - 2/5
NM_001321332.1 c.-81+219T>C - intron_variant - 2/5
NM_001321333.1 c.-81+219T>C - intron_variant - 2/4
NM_016133.4 c.89T>C p.Ile30Thr missense_variant 2/6 -