Variant #0000063334 (NC_000023.10:g.10423033_10423036dup, MID1(NM_000381.3):c.1530_1533dup)

Individual ID 00036139
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10423033_10423036dup
DNA change (hg38) g.10454993_10454996dup
Published as -
ISCN -
DB-ID MID1_000024
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MID1 NM_000381.3 +/. - c.1530_1533dup r.(?) p.(Ser512Valfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036209 DNA SEQ - - MID1 1 Andreas Laner