PC c.1204_1206delinsTGA ;(p.G402*)

Variant ID: 11-66631407-GCC-TCA

NM_001040716.1(PC):c.1204_1206delinsTGA;(p.G402*)

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:

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Bmc Medical Genomics
Chkioua, Latifa L; Amri, Yessine Y; Saheli, Chayma C; Fenni, Ferdawes F; Boudabous, Hela H; Ben Turkia, Hadhami H; Messaoud, Taieb T; Tebib, Neji N; Laradi, Sandrine S
Publication Date: 2021-08-23

Variant appearance in text: PC: G402X
PubMed Link: 34425818
Variant Present in the following documents:
  • 12920_2021_Article_1061.pdf
View BVdb publication page


Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.

Bmc Medical Genomics
Chkioua, Latifa L; Amri, Yessine Y; Chaima, Sahli S; Fenni, Ferdawes F; Boudabous, Hela H; Ben Turkia, Hadhami H; Messaoud, Taieb T; Tebib, Neji N; Laradi, Sandrine S
Publication Date: 2021-08-23

Variant appearance in text: PC: G402X
PubMed Link: 34425818
Variant Present in the following documents:
  • 12920_2021_Article_1061.pdf
View BVdb publication page