Variant #0000446034 (NC_000014.8:g.23902934T>G, MYH7(NM_000257.2):c.8A>C)

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.23902934T>G
DNA change (hg38) g.23433725T>G
Published as 5728A>C
ISCN -
DB-ID MYH7_000370
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs3729993
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 -/. 3 c.8A>C r.(?) p.(Asp3Ala)