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GLA c.1077_1120del ;(p.G360Rfs*5)
Variant ID: X-100652967-TTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCA-T
NM_000169.2(
GLA
):c.1077_1120del;(p.G360Rfs*5)
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:
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016
Variant appearance in text: GLA: 1077_1120del
PubMed Link:
27560961
Variant Present in the following documents:
Main text
pone.0161330.pdf
View BVdb publication page