Variant #0000445929 (NC_000014.8:g.23901040C>G, MYH7(NM_000257.2):c.569G>C)

Individual ID 00212939
Chromosome 14
Allele Parent #1
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.23901040C>G
DNA change (hg38) g.23431831C>G
Published as X52889.1:6283G>C
ISCN -
DB-ID MYH7_000064 See all 3 reported entries
Variant remarks -
Reference Andersen AJHG1998 63:A349
ClinVar ID -
dbSNP ID -
Origin Unknown
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.569G>C r.(?) p.(Arg190Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214015 DNA SEQ - - MYH7 1 Johan den Dunnen