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MYH13 c.2174+192T>G
Variant ID: 17-10236199-A-C
NM_003802.2(
MYH13
):c.2174+192T>G
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 genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs11654733
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.
Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06
Variant appearance in text: MYH13: 2174+192T>G; rs11654733
PubMed Link:
33503336
Variant Present in the following documents:
CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: MYH13: 2174+192T>G; rs11654733
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs11654733
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page