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GLA c.887T>C ;(p.M296T)
Variant ID: X-100653470-A-G
NM_000169.2(
GLA
):c.887T>C;(p.M296T)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: GLA: M296T
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
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: 887T>C; M296T
PubMed Link:
27560961
Variant Present in the following documents:
Main text
pone.0161330.pdf
View BVdb publication page