GAA c.1651A>T ;(p.T551S)

Variant ID: 17-78085796-A-T

NM_000152.3(GAA):c.1651A>T;(p.T551S)

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:

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Genes
Downes, Susan M SM; Nguyen, Tham T; Tai, Vicky V; Broadgate, Suzanne S; Shah, Mital M; Al-Khuzaei, Saoud S; MacLaren, Robert E RE; Shanks, Morag M; Clouston, Penny P; Halford, Stephanie S
Publication Date: 2020-12-12

Variant appearance in text: GAA: 1651A>T
PubMed Link: 33322828
Variant Present in the following documents:
  • Main text
  • genes-11-01497.pdf
View BVdb publication page