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MYH7 c.2358G>T ;(p.T786=)
Variant ID: 14-23894556-C-A
NM_000257.2(
MYH7
):c.2358G>T;(p.T786=)
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:
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: MYH7: T786T; rs36211714
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: MYH7: 2358G>T; Thr786=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.
Cardiovascular Journal Of Africa
Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM
Publication Date: 2016
Variant appearance in text: rs36211714
PubMed Link:
27841901
Variant Present in the following documents:
Main text
cvja-27-152.pdf
View BVdb publication page