Variant #0000352602 (NC_000022.10:g.33735176_33798267del, LARGE(NM_004737.4):c.893-17976_1132-1388del)

Individual ID 00152611
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.33735176_33798267del
DNA change (hg38) g.33339190_33402281del
Published as -
ISCN -
DB-ID LARGE_000003 See all 2 reported entries
Variant remarks deletion 63 Kb
Reference PubMed: van Reeuwijk 2007, OMIM:var0003
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 -/. 8i c.893-17976_1132-1388del r.(ex09ex10del) p.delfs*?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153469 DNA MAPH;MLPA - - LARGE 1 Johan den Dunnen