FAT1 c.5970_5971del ;(p.N1991Ffs*19)

Variant ID: 4-187541768-TTC-T

NM_005245.3(FAT1):c.5970_5971del;(p.N1991Ffs*19)

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:

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.

Genes
Haug, Patricia P; Koller, Samuel S; Maggi, Jordi J; Lang, Elena E; Feil, Silke S; Wlodarczyk, Agnès A; Bähr, Luzy L; Steindl, Katharina K; Rohrbach, Marianne M; Gerth-Kahlert, Christina C; Berger, Wolfgang W
Publication Date: 2021-01-06

Variant appearance in text: FAT1: 5970_5971del
PubMed Link: 33418956
Variant Present in the following documents:
  • Main text
  • genes-12-00065.pdf
View BVdb publication page