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TG c.3127del ;(p.H1043Tfs*10)
Variant ID: 8-133910017-GC-G
NM_003235.4(
TG
):c.3127del;(p.H1043Tfs*10)
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:
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27
Variant appearance in text: TG: 3126delC
PubMed Link:
35086560
Variant Present in the following documents:
41065_2022_Article_224.pdf
View BVdb publication page
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Hereditas
Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M
Publication Date: 2022-01-27
Variant appearance in text: TG: 3126delC
PubMed Link:
35086560
Variant Present in the following documents:
41065_2022_Article_224.pdf
View BVdb publication page