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LDLR c.769_770delinsTA ;(p.R257*)
Variant ID: 19-11217315-CG-TA
NM_000527.4(
LDLR
):c.769_770delinsTA;(p.R257*)
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:
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Journal Of Child Neurology
Boycott, Kym M KM; Bonnemann, Carsten C; Herz, Joachim J; Neuert, Stephanie S; Beaulieu, Chandree C; Scott, James N JN; Venkatasubramanian, Anuradha A; Parboosingh, Jillian S JS
Publication Date: 2009-10
Variant appearance in text: LDLR: R257X
PubMed Link:
19332571
Variant Present in the following documents:
Main text
View BVdb publication page