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PSEN1 c.784T>G ;(p.L262V)
Variant ID: 14-73664753-T-G
NM_000021.3(
PSEN1
):c.784T>G;(p.L262V)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19
Variant appearance in text: PSEN1: Leu262Val
PubMed Link:
36142879
Variant Present in the following documents:
Main text
ijms-23-10970.pdf
View BVdb publication page
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Plos One
Guven, Gamze G; Lohmann, Ebba E; Bras, Jose J; Gibbs, J Raphael JR; Gurvit, Hakan H; Bilgic, Basar B; Hanagasi, Hasmet H; Rizzu, Patrizia P; Heutink, Peter P; Emre, Murat M; Erginel-Unaltuna, Nihan N; Just, Walter W; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R
Publication Date: 2016
Variant appearance in text: PSEN1: 784T>G; L262V
PubMed Link:
27632209
Variant Present in the following documents:
Main text
pone.0162592.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: PSEN1: L262V
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
View BVdb publication page
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
Neurobiology Of Aging
Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A
Publication Date: 2012-08
Variant appearance in text: PSEN1: 784T>G; L262V
PubMed Link:
22503161
Variant Present in the following documents:
Main text
View BVdb publication page