Variant #0000760090 (NC_000003.11:g.100976600T>C, IMPG2(NM_016247.3):c.926A>G)

Individual ID 00358978
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.100976600T>C
DNA change (hg38) g.101257756T>C
Published as -
ISCN -
DB-ID IMPG2_000121
Variant remarks -
Reference PubMed: Tiwari 2016
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 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.926A>G r.(?) p.(Tyr309Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360215 DNA SEQ-NG - WES - 3 LOVD