FAT1 c.384T>A ;(p.N128K)

Variant ID: 4-187630598-A-T

NM_005245.3(FAT1):c.384T>A;(p.N128K)

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 the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific Reports
Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A
Publication Date: 2021-01-11

Variant appearance in text: FAT1: N128K
PubMed Link: 33431980
Variant Present in the following documents:
  • 41598_2020_79412_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page