Variant #0000352629 (NC_000022.10:g.?, LARGE(NM_004737.4):c.1131+?_1131+?delins)

Individual ID 00152634
Chromosome 22
Allele Both (homozygous)
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 -
ISCN -
DB-ID LARGE_000028 See all 2 reported entries
Variant remarks mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb insertion change intron; mRNA fibroblasts, 197/171/0 bp insertion
Reference PubMed: Clarke 2011, OMIM:var0008
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 +/. 10i c.1131+?_1131+?delins r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =] p.[Val378Leufs*2, =]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153492 DNA;RNA RT-PCR;SEQ - - LARGE 1 Johan den Dunnen