GC c.916_917delinsTA ;(p.M306*)

Variant ID: 4-72622546-AT-TA

NM_000583.3(GC):c.916_917delinsTA;(p.M306*)

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:

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal Of Medical Genetics
Hu, Kun K; Zatyka, Malgorzata M; Astuti, Dewi D; Beer, Nicola N; Dias, Renuka P RP; Kulkarni, Archana A; Ainsworth, John J; Wright, Benjamin B; Majander, Anna A; Yu-Wai-Man, Patrick P; Williams, Denise D; Barrett, Timothy T
Publication Date: 2022-01

Variant appearance in text: GC: Met306X
PubMed Link: 34006618
Variant Present in the following documents:
  • Main text
View BVdb publication page


WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal Of Medical Genetics
Hu, Kun K; Zatyka, Malgorzata M; Astuti, Dewi D; Beer, Nicola N; Dias, Renuka P RP; Kulkarni, Archana A; Ainsworth, John J; Wright, Benjamin B; Majander, Anna A; Yu-Wai-Man, Patrick P; Williams, Denise D; Barrett, Timothy T
Publication Date: 2021-05-18

Variant appearance in text: GC: Met306X
PubMed Link: 34006618
Variant Present in the following documents:
  • Main text
View BVdb publication page