Variant #0000986035 (NC_000005.9:g.137167985_137232892dup, NM_006790.2:c.-309_*466dup (MYOT))

Individual ID 00450484
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.137167985_137232892dup
DNA change (hg38) g.137832296_137897203dup
Published as hg38 chr5:137,832,296-137,897,203dup
ISCN -
DB-ID MYOT_000079
Variant remarks 65kb duplication
Reference Journal: Steyaert 2024
ClinVar ID -
dbSNP ID -
Origin De novo
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
Date created 2024-05-28 19:23:55 +02:00 (CEST)
Date last edited 2024-05-28 19:30:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PKD2L2 NM_001300921.1 ?/. - c.? r.? p.?
MYOT NM_006790.2 +?/. _1_10_ c.-309_*466dup r.? p.?
PKD2L2 NM_014386.2 ?/. _1_4i c.-56_525-2313{2} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000452082 DNA SEQ;SEQ-NG;SEQ-PB - gene panel, WGS - 1 Johan den Dunnen


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