Variant #0000597869 (NC_000022.10:g.33774511_34221251del, LARGE(NM_004737.4):c.-83+31477_1131+3394del)

Individual ID 00265901
Chromosome 22
Allele Parent #1
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.33774511_34221251del
DNA change (hg38) g.33378525_33825263del
Published as -
ISCN -
DB-ID LARGE_000087
Variant remarks Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Cummings 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 +/. 2i_10i c.-83+31477_1131+3394del r.-82_1131del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267021 DNA;RNA RT-PCR;SEQ;SEQ-NG - - LARGE 2 Johan den Dunnen