SCN5A c.5147T>C ;(p.L1716P)

Variant ID: 3-38592713-A-G

NM_000335.4(SCN5A):c.5147T>C;(p.L1716P)

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 DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: SCN5A: L1716P
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 7
View BVdb publication page