STN1 c.78T>A ;(p.F26L)

Variant ID: 10-105677275-A-T

NM_024928.4(STN1):c.78T>A;(p.F26L)

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:

Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome.

Frontiers In Molecular Biosciences
Amir, Mohd M; Mohammad, Taj T; Kumar, Vijay V; Alajmi, Mohammed F MF; Rehman, Md Tabish MT; Hussain, Afzal A; Alam, Perwez P; Dohare, Ravins R; Islam, Asimul A; Ahmad, Faizan F; Hassan, Md Imtaiyaz MI
Publication Date: 2019

Variant appearance in text: STN1: F26L
PubMed Link: 31245382
Variant Present in the following documents:
  • Main text
  • fmolb-06-00041.pdf
View BVdb publication page