Variant #0000760330 (NC_000003.11:g.101039149dup, IMPG2(NM_016247.3):c.68dup)

Individual ID 00359200
Chromosome 3
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.101039149dup
DNA change (hg38) g.101320305dup
Published as 68dupA
ISCN -
DB-ID IMPG2_000124
Variant remarks -
Reference PubMed: Ellingford 2016
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 LOVD
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     
IMPG2 NM_016247.3 ?/. - c.68dup r.(?) p.(Asp23Glufs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360438 DNA SEQ - 105-gene panel - 1 LOVD