Variant #0000442840 (NC_000005.9:g.137206456C>T, MYOT(NM_006790.2):c.116C>T)

Individual ID 00210279
Chromosome 5
Allele Parent #1
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.137206456C>T
DNA change (hg38) g.137870767C>T
Published as -
ISCN -
DB-ID MYOT_000011 See all 3 reported entries
Variant remarks control chromosomes
Reference PubMed: Foroud 2005, OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site BbsI-
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
Date created 2006-02-19 16:48:50 +01:00 (CET)
Date last edited 2018-12-27 19:20:04 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYOT NM_006790.2 +/. 2 c.116C>T r.(?) p.(Ser39Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211355 DNA SEQ - - MYOT 1 Johan den Dunnen