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SNCA c.157_159delinsTGT ;(p.A53C)
Variant ID: 4-90749298-TGC-ACA
NM_000345.3(
SNCA
):c.157_159delinsTGT;(p.A53C)
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:
Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons.
Stem Cell Reports
Ahfeldt, Tim T; Ordureau, Alban A; Bell, Christina C; Sarrafha, Lily L; Sun, Chicheng C; Piccinotti, Silvia S; Grass, Tobias T; Parfitt, Gustavo M GM; Paulo, Joao A JA; Yanagawa, Fumiki F; Uozumi, Takayuki T; Kiyota, Yasujiro Y; Harper, J Wade JW; Rubin, Lee L LL
Publication Date: 2020-01-14
Variant appearance in text: SNCA: A53C
PubMed Link:
31902706
Variant Present in the following documents:
Main text
View BVdb publication page