Variant #0000352632 (NC_000022.10:g.33755643_33800775del, LARGE(NM_004737.4):c.893-20485_1132-21856del)

Individual ID 00152636
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.33755643_33800775del
DNA change (hg38) g.33359657_33404789del
Published as 871+27358_1132-21850del42152insT
ISCN -
DB-ID LARGE_000030
Variant remarks 42 Kb deletion exon 9-10
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 +/. 8i_10i c.893-20485_1132-21856del r.893_1131del p.Val299Hisfs*30



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