Variant #0000735628 (NC_000003.11:g.101010343A>C, IMPG2(NM_016247.3):c.513T>G)

Individual ID 00335124
Chromosome 3
Allele Unknown
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.101010343A>C
DNA change (hg38) g.101291499A>C
Published as -
ISCN -
DB-ID IMPG2_000035 See all 5 reported entries
Variant remarks -
Reference PubMed: Haer-Wigman 2017
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 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.513T>G r.(?) p.(Tyr171*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336353 DNA SEQ-NG - gene panel IMPG2 1 LOVD