Variant #0000445923 (NC_000014.8:g.23902865G>A, MYH7(NM_000257.2):c.77C>T)

Individual ID 00212933
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.23902865G>A
DNA change (hg38) g.23433656G>A
Published as X52889.1:4470C>T
ISCN -
DB-ID MYH7_000046 See all 8 reported entries
Variant remarks -
Reference Koyanagi Circulation 1996 94:I110
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00053 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 +/. 3 c.77C>T r.(?) p.(Ala26Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214009 DNA SEQ - - MYH7 1 Johan den Dunnen