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PSEN1 c.656T>G ;(p.L219R)
Variant ID: 14-73659459-T-G
NM_000021.3(
PSEN1
):c.656T>G;(p.L219R)
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:
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: L219R
PubMed Link:
32087291
Variant Present in the following documents:
Main text
NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
nihms-1588025.pdf
View BVdb publication page