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SNCA c.383C>T ;(p.P128L)
Variant ID: 4-90650352-G-A
NM_000345.3(
SNCA
):c.383C>T;(p.P128L)
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:
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
Human Molecular Genetics
Simón-Sánchez, Javier J; Singleton, Andrew B AB
Publication Date: 2008-07-01
Variant appearance in text: PARK4: P128L
PubMed Link:
18364387
Variant Present in the following documents:
Main text
View BVdb publication page