Variant #0000445612 (NC_000014.8:g.23901046G>T, MYH7(NM_000257.2):c.563C>A)

Individual ID 00212627
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23901046G>T
DNA change (hg38) g.23431837G>T
Published as -
ISCN -
DB-ID MYH7_000063 See all 2 reported entries
Variant remarks -
Reference PubMed: Richard 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 +/. 7 c.563C>A r.(?) p.(Thr188Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000213703 DNA SEQ - - MYH7 1 Johan den Dunnen