Variant #0000059941 (NC_000003.11:g.101023112G>A, IMPG2(NM_016247.3):c.379C>T)

Individual ID 00033089
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101023112G>A
DNA change (hg38) g.101304268G>A
Published as Arg127* 379G>A
ISCN -
DB-ID IMPG2_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Van Huet 2014, PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Kornelia Neveling
Database submission license No license selected
Created by Kornelia Neveling
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 +/. 3 c.379C>T r.(?) p.(Arg127*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033157 DNA;RNA RT-PCR;SEQ;SEQ-NG-S - - ELOVL4, IMPG2 4 Kornelia Neveling