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LDLR c.2084C>T ;(p.T695I)
Variant ID: 19-11231142-C-T
NM_000527.4(
LDLR
):c.2084C>T;(p.T695I)
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:
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09
Variant appearance in text: LDLR: 2084C>T
PubMed Link:
34503567
Variant Present in the following documents:
13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page