Variant #0000280702 (NC_000014.8:g.23901996C>T, MYH7(NM_000257.2):c.354G>A)

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.23901996C>T
DNA change (hg38) g.23432787C>T
Published as MYH7(NM_000257.2):c.354G>A (p.S118=)
ISCN -
DB-ID MYH7_000765 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 -/. - c.354G>A r.(?) p.(Ser118=)