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LRRK2 c.5755_5756delinsGC ;(p.Q1919A)
Variant ID: 12-40722260-CA-GC
NM_198578.3(
LRRK2
):c.5755_5756delinsGC;(p.Q1919A)
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:
Roco kinase structures give insights into the mechanism of Parkinson disease-related leucine-rich-repeat kinase 2 mutations.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Gilsbach, Bernd K BK; Ho, Franz Y FY; Vetter, Ingrid R IR; van Haastert, Peter J M PJ; Wittinghofer, Alfred A; Kortholt, Arjan A
Publication Date: 2012-06-26
Variant appearance in text: LRRK2: Q1919A
PubMed Link:
22689969
Variant Present in the following documents:
Main text
View BVdb publication page