NF1 c.4925T>A ;(p.V1642E)

Variant ID: 17-29652927-T-A

NM_001042492.2(NF1):c.4925T>A;(p.V1642E)

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:

Characterization of Two Loss-of-Function NF1 Variants in Chinese Patients and Potential Molecular Interpretations of Phenotypes.

Frontiers In Genetics
Zhang, Tingting T; Han, Tianting T; Dong, Zhiya Z; Li, Chuanyin C; Lu, Wenli W
Publication Date: 2021

Variant appearance in text: NF1: 4925T>A; V1642E
PubMed Link: 34046057
Variant Present in the following documents:
  • Main text
  • fgene-12-660592.pdf
View BVdb publication page