Variant #0000686115 (NC_000003.11:g.100976391A>G, IMPG2(NM_016247.3):c.1135T>C)

Individual ID 00309825
Chromosome 3
Allele Both (homozygous)
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.100976391A>G
DNA change (hg38) -
Published as Ser379Pro
ISCN -
DB-ID IMPG2_000098
Variant remarks -
Reference PubMed: Van Huet 2014
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 Johan den Dunnen
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.1135T>C r.(?) p.(Ser379Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000310970 DNA SEQ - - IMPG2 1 Johan den Dunnen