Variant #0000352644 (NC_000022.10:g.33712193_33712194delinsAT, LARGE(NM_004737.4):c.1328_1329delinsAT)

Individual ID 00152646
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33712193_33712194delinsAT
DNA change (hg38) g.33316207_33316208delinsAT
Published as -
ISCN -
DB-ID LARGE_000020
Variant remarks -
Reference -
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 Tom Winder
Database submission license No license selected
Created by Tom Winder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 ?/. 12 c.1328_1329delinsAT r.(?) p.(Cys443Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153504 DNA PCR;SEQ - - LARGE 1 Tom Winder