Variant #0000811495 (NC_000003.11:g.100992424C>T, IMPG2(NM_016247.3):c.828+1G>A)

Individual ID 00383502
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100992424C>T
DNA change (hg38) g.101273580C>T
Published as IMPG2 c.828+1G>A, Splice
ISCN -
DB-ID IMPG2_000092 See all 2 reported entries
Variant remarks -
Reference PubMed: Kim 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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.828+1G>A r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384727 DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders; see paper IMPG2 1 LOVD