SNCA c.58_60delinsTTT ;(p.E20F)

Variant ID: 4-90756759-CTC-AAA

NM_000345.3(SNCA):c.58_60delinsTTT;(p.E20F)

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:

Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

American Journal Of Human Genetics
Lautier, Corinne C; Goldwurm, Stefano S; Dürr, Alexandra A; Giovannone, Barbara B; Tsiaras, William G WG; Pezzoli, Gianni G; Brice, Alexis A; Smith, Robert J RJ
Publication Date: 2008-04

Variant appearance in text: SNCA: E20F
PubMed Link: 18358451
Variant Present in the following documents:
  • Main text
View BVdb publication page