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NF1 c.4183C>A ;(p.Q1395K)
Variant ID: 17-29585371-C-A
NM_001042492.2(
NF1
):c.4183C>A;(p.Q1395K)
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:
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Journal Of Epilepsy Research
Rahman, Md Mizanur MM; Fatema, Kanij K
Publication Date: 2021-06
Variant appearance in text: NF1: 4183C>A; Gln1395Lys
PubMed Link:
34395220
Variant Present in the following documents:
Main text
View BVdb publication page