PSEN1 c.207A>C ;(p.E69D)

Variant ID: 14-73637624-A-C

NM_000021.3(PSEN1):c.207A>C;(p.E69D)

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: E69D
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