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LDLR c.107A>C ;(p.D36A)
Variant ID: 19-11210938-A-C
NM_000527.4(
LDLR
):c.107A>C;(p.D36A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations.
Nature Communications
Nait Saada, Juba J; Kalantzis, Georgios G; Shyr, Derek D; Cooper, Fergus F; Robinson, Martin M; Gusev, Alexander A; Palamara, Pier Francesco PF
Publication Date: 2020-11-30
Variant appearance in text: LDLR: D36A
PubMed Link:
33257650
Variant Present in the following documents:
Main text
View BVdb publication page