Variant #0000352631 (NC_000022.10:g.?, LARGE(NM_004737.4):c.-145-(24848_24703)_409-(3319_3067)dup)

Individual ID 00152636
Chromosome 22
Allele Paternal (confirmed)
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.?
DNA change (hg38) -
Published as chr22.hg18:(32355377_32355629)_(32607493_32607638)dup
ISCN -
DB-ID LARGE_000029
Variant remarks 252 Kb duplication exon 2-4
Reference PubMed: Vuillaumier-Barrot 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 +/. 1i_4i c.-145-(24848_24703)_409-(3319_3067)dup c.(-145_408dup) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153494 DNA;RNA arrayCGH;PCRq;RT-PCR;SEQ - - LARGE 2 Johan den Dunnen