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LDLR c.364_422del ;(p.I122Lfs*38)
Variant ID: 19-11215943-TGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAG-T
NM_000527.4(
LDLR
):c.364_422del;(p.I122Lfs*38)
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:
Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.
Journal Of The Endocrine Society
Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H
Publication Date: 2020-01-01
Variant appearance in text: LDLR: I122_I210del
PubMed Link:
31993549
Variant Present in the following documents:
Main text
View BVdb publication page