Variant ID: 19-11221406-GC-TG

NM_000527.4(LDLR):c.1019_1020delinsTG;(p.Cys340Leu)

This variant was identified in 2 publications




Publications:


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: 1019_1020delinsTG
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation
M Marduel, A Carrié, A Sassolas, M Devillers, V Carreau, M Di Filippo, D Erlich, M Abifadel, A Marques-Pinheiro, A Munnich, C Junien, , C Boileau, M Varret, JP Rabès
Publication Date: 2010-11

Variant appearance in text: N/A
PubMed Link: 20809525
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1273_1274delinsTG p.Cys425Leu missense_variant 7/18 -
ENST00000455727.2 c.515_516delinsTG p.Cys172Leu missense_variant 5/16 -
ENST00000535915.1 c.896_897delinsTG p.Cys299Leu missense_variant 6/17 -
ENST00000545707.1 c.638_639delinsTG p.Cys213Leu missense_variant 6/16 -
ENST00000557933.1 c.1019_1020delinsTG p.Cys340Leu missense_variant 7/18 -
ENST00000558013.1 c.1019_1020delinsTG p.Cys340Leu missense_variant 7/18 -
ENST00000558518.1 c.1019_1020delinsTG p.Cys340Leu missense_variant 7/18 -
ENST00000560173.1 n.18_19delinsTG - non_coding_transcript_exon_variant 1/3 -
ENST00000560467.1 c.541-784_541-783delinsTG - intron_variant - 3/5
NM_000527.5 c.1019_1020delinsTG p.Cys340Leu missense_variant 7/18 -
NM_001195798.2 c.1019_1020delinsTG p.Cys340Leu missense_variant 7/18 -
NM_001195799.2 c.896_897delinsTG p.Cys299Leu missense_variant 6/17 -
NM_001195800.2 c.515_516delinsTG p.Cys172Leu missense_variant 5/16 -
NM_001195803.2 c.638_639delinsTG p.Cys213Leu missense_variant 6/16 -