NF1 c.285T>G ;(p.A95=)

Variant ID: 17-29486108-T-G

NM_001042492.2(NF1):c.285T>G;(p.A95=)

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:

Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Child'S Nervous System : Chns : Official Journal Of The International Society For Pediatric Neurosurgery
Harder, Anja A
Publication Date: 2022-04

Variant appearance in text: NF1: Ala95Ala
PubMed Link: 34997843
Variant Present in the following documents:
  • 381_2021_5436_MOESM1_ESM.pdf
View BVdb publication page