MYH7 c.4660G>C ;(p.E1554Q)

Variant ID: 14-23885506-C-G

NM_000257.2(MYH7):c.4660G>C;(p.E1554Q)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews
Parker, Francine F; Peckham, Michelle M
Publication Date: 2020-08

Variant appearance in text: MYH7: Glu1554Gln
PubMed Link: 32651905
Variant Present in the following documents:
  • 12551_2020_721_MOESM1_ESM.pdf
View BVdb publication page


Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

European Journal Of Human Genetics : Ejhg
Broendberg, Anders Krogh AK; Christiansen, Morten Krogh MK; Nielsen, Jens Cosedis JC; Pedersen, Lisbeth Noerum LN; Jensen, Henrik Kjaerulf HK
Publication Date: 2018-03

Variant appearance in text: MYH7: 4660G>C
PubMed Link: 29343803
Variant Present in the following documents:
  • Main text
View BVdb publication page