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PSEN1 c.528T>G ;(p.F176L)
Variant ID: 14-73653608-T-G
NM_000021.3(
PSEN1
):c.528T>G;(p.F176L)
This variant was identified in 2 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: Phe176Leu
PubMed Link:
36142879
Variant Present in the following documents:
Main text
ijms-23-10970.pdf
View BVdb publication page
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06
Variant appearance in text: PSEN1: F176L
PubMed Link:
32087291
Variant Present in the following documents:
Main text
nihms-1588025.pdf
NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
View BVdb publication page