Variant ID: 19-11210921-C-G

NM_000527.4(LDLR):c.90C>G;(p.Asn30Lys)

This variant was identified in 2 publications




Publications:


Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One
M Hayat, R Kerr, AR Bentley, CN Rotimi, FJ Raal, M Ramsay
Publication Date: 2020

Variant appearance in text: rs72658855
PubMed Link: 32084179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis
Publication Date: 2014-02

Variant appearance in text: rs72658855
PubMed Link: 24336170
Variant Present in the following documents:
  • Main text
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.345C>G p.Asn115Lys missense_variant 2/18 -
ENST00000455727.2 c.90C>G p.Asn30Lys missense_variant 2/16 -
ENST00000535915.1 c.90C>G p.Asn30Lys missense_variant 2/17 -
ENST00000545707.1 c.90C>G p.Asn30Lys missense_variant 2/16 -
ENST00000557933.1 c.90C>G p.Asn30Lys missense_variant 2/18 -
ENST00000557958.1 n.176C>G - non_coding_transcript_exon_variant 2/3 -
ENST00000558013.1 c.90C>G p.Asn30Lys missense_variant 2/18 -
ENST00000558518.1 c.90C>G p.Asn30Lys missense_variant 2/18 -
ENST00000560502.1 n.176C>G - non_coding_transcript_exon_variant 2/2 -
NM_000527.5 c.90C>G p.Asn30Lys missense_variant 2/18 -
NM_001195798.2 c.90C>G p.Asn30Lys missense_variant 2/18 -
NM_001195799.2 c.90C>G p.Asn30Lys missense_variant 2/17 -
NM_001195800.2 c.90C>G p.Asn30Lys missense_variant 2/16 -
NM_001195803.2 c.90C>G p.Asn30Lys missense_variant 2/16 -