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TYR c.985T>C ;(p.S329P)
Variant ID: 11-88924535-T-C
NM_000372.4(
TYR
):c.985T>C;(p.S329P)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: TYR: 985T>C; Ser329Pro
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page
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: S329P
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: S329P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
Plos One
Wang, Yun Y; Wang, Zhi Z; Chen, Mengping M; Fan, Ning N; Yang, Jie J; Liu, Lu L; Wang, Ying Y; Liu, Xuyang X
Publication Date: 2015
Variant appearance in text: TYR: 985T>C
PubMed Link:
25919014
Variant Present in the following documents:
Main text
pone.0125651.pdf
View BVdb publication page