TPRN c.1255C>T ;(p.P419S)

Variant ID: 9-140093909-G-A

NM_001128228.2(TPRN):c.1255C>T;(p.P419S)

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:

Next generation sequencing (NGS) strategies for the genetic testing of myopathies.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Nigro, Vincenzo V; Piluso, Giulio G
Publication Date: 2012-12

Variant appearance in text: C9orf75: Pro419Ser
PubMed Link: 23620651
Variant Present in the following documents:
  • 1128-2460-31-196.pdf
View BVdb publication page