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MYOC c.644T>C ;(p.L215P)
Variant ID: 1-171607823-A-G
NM_000261.1(
MYOC
):c.644T>C;(p.L215P)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022
Variant appearance in text: MYOC: 644T>C; L215P; rs531050114
PubMed Link:
35910219
Variant Present in the following documents:
DataSheet1.xlsx, sheet 7
View BVdb publication page
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
International Journal Of Ophthalmology
Yao, Yi-Hua YH; Wang, Ya-Qin YQ; Fang, Wei-Fang WF; Zhang, Liu L; Yang, Ju-Hua JH; Zhu, Yi-Hua YH
Publication Date: 2018
Variant appearance in text: MYOC: L215P
PubMed Link:
29600168
Variant Present in the following documents:
Main text
View BVdb publication page
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.
Molecular Vision
Li, Dan D; Wang, Siying S; Ye, Hongfei H; Tang, Yating Y; Qiu, Xiaodi X; Fan, Qi Q; Rong, Xianfang X; Liu, Xin X; Chen, Yuhong Y; Yang, Jin J; Lu, Yi Y
Publication Date: 2016
Variant appearance in text: MYOC: Leu215Pro
PubMed Link:
27307692
Variant Present in the following documents:
Main text
mv-v22-589.pdf
View BVdb publication page
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04
Variant appearance in text: MYOC: L215P
PubMed Link:
27093186
Variant Present in the following documents:
pgen.1005895.s019.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: GLC1A: L215P
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: MYOC: L215P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page