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HEXA c.1490A>G ;(p.Y497C)
Variant ID: 15-72637823-T-C
NM_000520.4(
HEXA
):c.1490A>G;(p.Y497C)
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:
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Molecular Genetics And Metabolism Reports
Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR
Publication Date: 2019-09
Variant appearance in text: HEXA: Tyr497Cys
PubMed Link:
31367523
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Plos One
Mistri, Mehul M; Tamhankar, Parag M PM; Sheth, Frenny F; Sanghavi, Daksha D; Kondurkar, Pratima P; Patil, Swapnil S; Idicula-Thomas, Susan S; Gupta, Sarita S; Sheth, Jayesh J
Publication Date: 2012
Variant appearance in text: rs147502219
PubMed Link:
22723944
Variant Present in the following documents:
Main text
pone.0039122.pdf
View BVdb publication page