Variant #0000685255 (NC_000003.11:g.101023121A>G, IMPG2(NM_016247.3):c.370T>C)

Individual ID 00309199
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101023121A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID IMPG2_000038 See all 4 reported entries
Variant remarks -
Reference PubMed: Sharon 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/2420 IRD families
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
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 +?/. - c.370T>C r.(?) p.(Phe124Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000310344 DNA SEQ - - IMPG2 1 Global Variome, with Curator vacancy