Variant #0000816260 (NC_000003.11:g.100961282_100963863del, IMPG2(NM_016247.3):c.?)

Individual ID 00386874
Chromosome 3
Allele Unknown
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.100961282_100963863del
DNA change (hg38) -
Published as IMPG2 chr3:100961282_100963863del
ISCN -
DB-ID IMPG2_000140 See all 3 reported entries
Variant remarks del exons 13-14 of 19, unsolved
Reference PubMed: Zampaglione-2020
ClinVar ID -
dbSNP ID -
Origin Unknown
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 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 ?/. - c.? r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388102 DNA SEQ-NG-I;PCRq blood - IMPG2 1 LOVD