Variant #0000445592 (NC_000014.8:g.23902782G>A, MYH7(NM_000257.2):c.160C>T)

Individual ID 00212608
Chromosome 14
Allele Parent #1
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.23902782G>A
DNA change (hg38) g.23433573G>A
Published as X52889.1:4553C>T
ISCN -
DB-ID MYH7_000818
Variant remarks not inherited affected parent
Reference PubMed: Nishi 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
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 -/. 3 c.160C>T r.(?) p.(Arg54*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000213684 DNA SEQ - - MYH7 2 Johan den Dunnen