EPN3 c.944C>T ;(p.S315F)

Variant ID: 17-48617660-C-T

NM_017957.2(EPN3):c.944C>T;(p.S315F)

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:

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022

Variant appearance in text: EPN3: 944C>T
PubMed Link: 35910219
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 7
View BVdb publication page