NF1 c.1634C>A ;(p.A545E)

Variant ID: 17-29546129-C-A

NM_001042492.2(NF1):c.1634C>A;(p.A545E)

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:

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.

Scientific Reports
Ejerskov, Cecilie C; Gaustadnes, Mette M; Ostergaard, John R JR; Krogh, Klaus K; Thorsen, Kasper K; Borglum, Anders D AD; Haagerup, Annette A
Publication Date: 2021-04-28

Variant appearance in text: NF1: 1634C>A; Ala545Glu
PubMed Link: 33911094
Variant Present in the following documents:
  • Main text
View BVdb publication page