Variant #0000442887 (NC_000005.9:g.137206504C>T, MYOT(NM_006790.2):c.164C>T)

Individual ID 00210326
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.137206504C>T
DNA change (hg38) g.137870815C>T
Published as 444C>T
ISCN -
DB-ID MYOT_000003 See all 14 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Gamez 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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     
MYOT NM_006790.2 +/. 2 c.164C>T r.(?) p.(Ser55Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211402 DNA SEQ - - MYOT 1 Johan den Dunnen