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HEXA c.1146+352T>G
Variant ID: 15-72639675-A-C
NM_000520.4(
HEXA
):c.1146+352T>G
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 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: rs191809305
PubMed Link:
22723944
Variant Present in the following documents:
Main text
pone.0039122.pdf
View BVdb publication page