NPEPPS c.494C>T ;(p.T165I)

Variant ID: 17-45656831-C-T

NM_006310.3(NPEPPS):c.494C>T;(p.T165I)

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: NPEPPS: T165I
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 7
View BVdb publication page