Variant #0000442841 (NC_000005.9:g.137206217T>G, MYOT(NM_006790.2):c.-124T>G)

Individual ID 00210280
Chromosome 5
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.137206217T>G
DNA change (hg38) g.137870528T>G
Published as -
ISCN -
DB-ID MYOT_000004
Variant remarks sequence comparison
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 6/50
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 -/. 1 c.-124T>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211356 DNA SEQ - - MYOT 1 Johan den Dunnen