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SNCA c.381G>T ;(p.M127I)
Variant ID: 4-90650354-C-A
NM_000345.3(
SNCA
):c.381G>T;(p.M127I)
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 new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.
Parkinsonism & Related Disorders
Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V
Publication Date: 2021-08
Variant appearance in text: SNCA: Met127Ile
PubMed Link:
34229155
Variant Present in the following documents:
nihms-1752483.pdf
View BVdb publication page