Variant #0000713690 (NC_000003.11:g.101038644C>A, IMPG2(NM_016247.3):c.118G>T)

Individual ID 00327926
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.101038644C>A
DNA change (hg38) -
Published as 3:101038644C>A ENST00000193391.7:c.118G>T (Glu40Ter)
ISCN -
DB-ID IMPG2_000110
Variant remarks -
Reference PubMed: Carss 2017
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.118G>T r.(?) p.(Glu40*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329141 DNA SEQ-NG - WES IMPG2 2 LOVD