PRNP c.289_290delinsGA ;(p.S97D)

Variant ID: 20-4680155-AG-GA

NM_000311.3(PRNP):c.289_290delinsGA;(p.S97D)

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:

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Journal Of Movement Disorders
Appel-Cresswell, Silke S; Guella, Ilaria I; Lehman, Anna A; Foti, Dean D; Farrer, Matthew J MJ
Publication Date: 2018-01

Variant appearance in text: PRNP: Ser97Asp
PubMed Link: 29316780
Variant Present in the following documents:
  • Main text
  • jmd-17066.pdf
View BVdb publication page