LRRK2 c.250C>T ;(p.L84F)

Variant ID: 12-40626088-C-T

NM_198578.3(LRRK2):c.250C>T;(p.L84F)

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:

A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H
Publication Date: 2021-06

Variant appearance in text: LRRK2: 250C>T
PubMed Link: 33818904
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1671.pdf
View BVdb publication page


A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Molecular Genetics & Genomic Medicine
Kaiyrzhanov, Rauan R; Aitkulova, Akbota A; Vandrovcova, Jana J; Murphy, David D; Zharkinbekova, Nazira N; Shashkin, Chingiz C; Akhmetzhanov, Vadim V; Kaishibayeva, Gulnaz G; Karimova, Altynay A; Myrzayev, Zhanybek Z; Murray, Malgorzata M; Khaibullin, Talgat T; Hardy, John J; Houlden, Henry H
Publication Date: 2021-06

Variant appearance in text: LRRK2: 250C>T
PubMed Link: 33818904
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1671.pdf
View BVdb publication page