Variant #0000236272 (NC_000023.10:g.(10435000_10417407)_(10535588_10917000)dup, MID1(NM_000381.3):c.(?_-1)_(*1_?)dup)

Individual ID 00144331
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(10435000_10417407)_(10535588_10917000)dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID MID1_000000
Variant remarks 496 kb duplication MID1
Reference PubMed: Baskin 2014
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
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     
MID1 NM_000381.3 ?/. _1_10_ c.(?_-1)_(*1_?)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145191 DNA arrayCGH;SEQ - - DMD 3 Johan den Dunnen