Variant ID: 19-11217361-A-C

NM_000527.4(LDLR):c.815A>C;(p.Asn272Thr)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: LDLR: N272T
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1070A>C p.Asn357Thr missense_variant,splice_region_variant 5/18 -
ENST00000455727.2 c.314-707A>C - intron_variant - 3/15
ENST00000535915.1 c.692A>C p.Asn231Thr missense_variant,splice_region_variant 4/17 -
ENST00000545707.1 c.434A>C p.Asn145Thr missense_variant,splice_region_variant 4/16 -
ENST00000557933.1 c.815A>C p.Asn272Thr missense_variant,splice_region_variant 5/18 -
ENST00000558013.1 c.815A>C p.Asn272Thr missense_variant,splice_region_variant 5/18 -
ENST00000558518.1 c.815A>C p.Asn272Thr missense_variant,splice_region_variant 5/18 -
ENST00000558528.1 n.330A>C - splice_region_variant,non_coding_transcript_exon_variant 1/2 -
ENST00000560467.1 c.416A>C p.Asn139Thr missense_variant,splice_region_variant 2/6 -
NM_000527.5 c.815A>C p.Asn272Thr missense_variant,splice_region_variant 5/18 -
NM_001195798.2 c.815A>C p.Asn272Thr missense_variant,splice_region_variant 5/18 -
NM_001195799.2 c.692A>C p.Asn231Thr missense_variant,splice_region_variant 4/17 -
NM_001195800.2 c.314-707A>C - intron_variant - 3/15
NM_001195803.2 c.434A>C p.Asn145Thr missense_variant,splice_region_variant 4/16 -