Variant #0000734714 (NC_000003.11:g.101038431G>A, IMPG2(NM_016247.3):c.331C>T)

Individual ID 00334575
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.101038431G>A
DNA change (hg38) g.101319587G>A
Published as -
ISCN -
DB-ID IMPG2_000118
Variant remarks -
Reference PubMed: Vincent 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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.331C>T r.(?) p.(Arg111*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335804 DNA SEQ-NG - 105-gene panel IMPG2, PRPF31 2 LOVD