Variant #0000783237 (NC_000014.8:g.(?_23859337)_(23889071_?)dup, MYH7(NM_000257.2):c.(?_3709)_(*116){2})

Individual ID 00372040
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_23859337)_(23889071_?)dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID MYH7_001311
Variant remarks -
Reference PubMed: Singer 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 ?/. - c.(?_3709)_(*116){2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373268 DNA SEQ-NG - WES - 1 Johan den Dunnen