PSEN1 c.1037G>T ;(p.S346I)

Variant ID: 14-73678558-G-T

NM_000021.3(PSEN1):c.1037G>T;(p.S346I)

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 Causes of Oculocutaneous Albinism in Pakistani Population.

Genes
Sajid, Zureesha Z; Yousaf, Sairah S; Waryah, Yar M YM; Mughal, Tauqeer A TA; Kausar, Tasleem T; Shahzad, Mohsin M; Rao, Ali R AR; Abbasi, Ansar A AA; Shaikh, Rehan S RS; Waryah, Ali M AM; Riazuddin, Saima S; Ahmed, Zubair M ZM
Publication Date: 2021-03-28

Variant appearance in text: PS1: 1037G>T
PubMed Link: 33800529
Variant Present in the following documents:
  • genes-12-00492.pdf
View BVdb publication page