Variant #0000599311 (NC_000014.8:g.23902892C>T, MYH7(NM_000257.2):c.50G>A)

Individual ID 00266656
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.23902892C>T
DNA change (hg38) g.23433683C>T
Published as -
ISCN -
DB-ID MYH7_000381 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs727503280
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 ?/. - c.50G>A r.(?) p.(Arg17His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267783 DNA SEQ-NG-S - - - 2 Andreas Laner