TF c.250_251insCAAA ;(p.G84Afs*6)

Variant ID: 3-133472472-G-GCAAA

NM_001063.3(TF):c.250_251insCAAA;(p.G84Afs*6)

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:

Quantitative fundus autofluorescence in recessive Stargardt disease.

Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Duncker, Tobias T; Woods, Russell L RL; Greenberg, Jonathan P JP; Zernant, Jana J; Tsang, Stephen H SH; Smith, R Theodore RT; Allikmets, Rando R; Sparrow, Janet R JR; Delori, François C FC
Publication Date: 2014-05-01

Variant appearance in text: TF: 250_251insCAAA
PubMed Link: 24677105
Variant Present in the following documents:
  • Main text
View BVdb publication page