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FAT1 c.2207dup ;(p.I737Nfs*7)
Variant ID: 4-187628774-T-TA
NM_005245.3(
FAT1
):c.2207dup;(p.I737Nfs*7)
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:
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Nature Communications
Lahrouchi, Najim N; George, Aman A; Ratbi, Ilham I; Schneider, Ronen R; Elalaoui, Siham C SC; Moosa, Shahida S; Bharti, Sanita S; Sharma, Ruchi R; Abu-Asab, Mones M; Onojafe, Felix F; Adadi, Najlae N; Lodder, Elisabeth M EM; Laarabi, Fatima-Zahra FZ; Lamsyah, Yassine Y; Elorch, Hamza H; Chebbar, Imane I; Postma, Alex V AV; Lougaris, Vassilios V; Plebani, Alessandro A; Altmueller, Janine J; Kyrieleis, Henriette H; Meiner, Vardiella V; McNeill, Helen H; Bharti, Kapil K; Lyonnet, Stanislas S; Wollnik, Bernd B; Henrion-Caude, Alexandra A; Berraho, Amina A; Hildebrandt, Friedhelm F; Bezzina, Connie R CR; Brooks, Brian P BP; Sefiani, Abdelaziz A
Publication Date: 2019-03-12
Variant appearance in text: FAT1: 2207dupT; I737NfsX7
PubMed Link:
30862798
Variant Present in the following documents:
Main text
41467_2019_Article_8547.pdf
View BVdb publication page