SCN1A c.694+227T>G

Variant ID: 2-166909135-A-C

NM_001165963.1(SCN1A):c.694+227T>G

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 reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics
Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C
Publication Date: 2021-07-21

Variant appearance in text: rs200415113
PubMed Link: 34289880
Variant Present in the following documents:
  • 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page