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SPTA1 c.1703G>C ;(p.R568P)
Variant ID: 1-158639328-C-G
NM_003126.2(
SPTA1
):c.1703G>C;(p.R568P)
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:
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014
Variant appearance in text: SPTA1: R568P
PubMed Link:
25333361
Variant Present in the following documents:
pone.0109576.s002.xls, sheet 4
View BVdb publication page