Variant #0000352634 (NC_000022.10:g.33871121_33976199delinsCAT, LARGE(NM_004737.4):c.616-15194_788-42870delinsATG)

Individual ID 00152637
Chromosome 22
Allele Maternal (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.33871121_33976199delinsCAT
DNA change (hg38) g.33475135_33580213delinsCAT
Published as 615+24218_788-42869delinsAATG
ISCN -
DB-ID LARGE_000032
Variant remarks 105 Kb deletion exon 7
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) 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     
LARGE NM_004737.4 +/. 6i_7i c.616-15194_788-42870delinsATG r.616_787del p.Ser206Valfs*37



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153495 DNA;RNA arrayCGH;PCRq;RT-PCR;SEQ - - LARGE 2 Johan den Dunnen