CSMD1 c.3929C>T ;(p.A1310V)

Variant ID: 8-3165238-G-A

NM_033225.5(CSMD1):c.3929C>T;(p.A1310V)

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:

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Human Genomics
Hirvonen, Elina A M EAM; Pitkänen, Esa E; Hemminki, Kari K; Aaltonen, Lauri A LA; Kilpivaara, Outi O
Publication Date: 2017-04-20

Variant appearance in text: CSMD1: 3929C>T; Ala1310Val
PubMed Link: 28427458
Variant Present in the following documents:
  • Main text
  • 40246_2017_Article_102.pdf
View BVdb publication page