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TYR c.57T>A ;(p.H19Q)
Variant ID: 11-88911178-T-A
NM_000372.4(
TYR
):c.57T>A;(p.H19Q)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: OCA1A: H19Q
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: TYR: H19Q
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.
Iranian Journal Of Public Health
Pour-Jafari, H H; Zamanian, A A; Pour-Jafari, B B
Publication Date: 2010
Variant appearance in text: OCA1: H19Q
PubMed Link:
23112997
Variant Present in the following documents:
Main text
ijph-39-100.pdf
View BVdb publication page