SLC45A2 c.1357G>T ;(p.E453*)

Variant ID: 5-33947279-C-A

NM_016180.3(SLC45A2):c.1357G>T;(p.E453*)

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:

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

Orphanet Journal Of Rare Diseases
Jaworek, Thomas J TJ; Kausar, Tasleem T; Bell, Shannon M SM; Tariq, Nabeela N; Maqsood, Muhammad Imran MI; Sohail, Asma A; Ali, Muhmmmad M; Iqbal, Furhan F; Rasool, Shafqat S; Riazuddin, Saima S; Shaikh, Rehan S RS; Ahmed, Zubair M ZM
Publication Date: 2012-06-26

Variant appearance in text: SLC45A2: Glu453*
PubMed Link: 22734612
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-44.pdf
View BVdb publication page