SIL1 c.1285T>G ;(p.Y429D)

Variant ID: 5-138282907-A-C

NM_022464.4(SIL1):c.1285T>G;(p.Y429D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: SIL1: Y429D
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Bmc Medical Genetics
Hamza, Wahiba W; Ali Pacha, Lamia L; Hamadouche, Tarik T; Muller, Jean J; Drouot, Nathalie N; Ferrat, Farida F; Makri, Samira S; Chaouch, Malika M; Tazir, Meriem M; Koenig, Michel M; Benhassine, Traki T
Publication Date: 2015-06-12

Variant appearance in text: SIL1: 1285T>G
PubMed Link: 26068213
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_180.pdf
View BVdb publication page