Variant #0000280695 (NC_000014.8:g.23902307_23902308del, MYH7(NM_000257.2):c.331_332del)

Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.23902307_23902308del
DNA change (hg38) g.23433098_23433099del
Published as MYH7(NM_000257.2):c.331_332delTC (p.S111Lfs*26)
ISCN -
DB-ID MYH7_000768
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) Variant not found in online data sets
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.331_332del r.(?) p.(Ser111LeufsTer26)