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LDLR c.1297_1298delinsAG ;(p.D433S)
Variant ID: 19-11224064-GA-AG
NM_000527.4(
LDLR
):c.1297_1298delinsAG;(p.D433S)
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:
Rare nonconservative LRP6 mutations are associated with metabolic syndrome.
Human Mutation
Singh, Rajvir R; Smith, Emily E; Fathzadeh, Mohsen M; Liu, Wenzhong W; Go, Gwang-Woong GW; Subrahmanyan, Lakshman L; Faramarzi, Saeed S; McKenna, William W; Mani, Arya A
Publication Date: 2013-09
Variant appearance in text: LDLR: Asp433Ser
PubMed Link:
23703864
Variant Present in the following documents:
Main text
View BVdb publication page