Variant #0000597889 (NC_000022.10:g.(?_3774511)_(34221251_?)del, LARGE(NM_004737.4):c.(?_-83+31477)_*1351del)

Individual ID 00054683
Chromosome 22
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_3774511)_(34221251_?)del
DNA change (hg38) -
Published as 22q12.3(33,774,511-34,221,251)
ISCN 2
DB-ID LARGE_000088
Variant remarks -
Reference PubMed: O'Grady 2017
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 +/. - c.(?_-83+31477)_*1351del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054632 DNA SEQ;SEQ-NG - - LARGE 2 Sandra Cooper