Variant #0000684428 (NC_000003.11:g.101023112G>A, IMPG2(NM_016247.3):c.379C>T)

Individual ID 00308419
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.101023112G>A
DNA change (hg38) g.101304268G>A
Published as c.379G>A
ISCN -
DB-ID IMPG2_000076 See all 3 reported entries
Variant remarks no variant 2nd chromosome
Reference PubMed: Boulanger-Scemama 2015
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 Global Variome, with Curator vacancy
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 +?/. 3 c.379C>T r.(?) p.(Arg127*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309563 DNA SEQ;SEQ-NG - 123 gene panel IMPG2 1 Global Variome, with Curator vacancy