Variant ID: 2-118864319-G-A

NM_016133.2(INSIG2):c.376G>A;(p.Asp126Asn)

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: D126N
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000245787.4 c.376G>A p.Asp126Asn missense_variant 4/6 -
ENST00000411929.1 c.18G>A p.Trp6* stop_gained,NMD_transcript_variant 3/5 -
ENST00000467223.1 n.257G>A - non_coding_transcript_exon_variant 4/6 -
ENST00000471186.1 n.200G>A - non_coding_transcript_exon_variant 3/4 -
ENST00000479999.1 n.85G>A - non_coding_transcript_exon_variant 1/3 -
ENST00000485520.1 n.208G>A - non_coding_transcript_exon_variant 4/6 -
ENST00000488995.1 n.305G>A - non_coding_transcript_exon_variant 3/4 -
NM_001321329.1 c.376G>A p.Asp126Asn missense_variant 4/6 -
NM_001321330.1 c.52G>A p.Asp18Asn missense_variant 3/5 -
NM_001321331.1 c.52G>A p.Asp18Asn missense_variant 4/6 -
NM_001321332.1 c.52G>A p.Asp18Asn missense_variant 4/6 -
NM_001321333.1 c.52G>A p.Asp18Asn missense_variant 4/5 -
NM_016133.4 c.376G>A p.Asp126Asn missense_variant 4/6 -