Variant #0000476218 (NC_000003.11:g.100972592A>G, IMPG2(NM_016247.3):c.1187T>C)

Individual ID 00232411
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.100972592A>G
DNA change (hg38) g.101253748A>G
Published as -
ISCN -
DB-ID IMPG2_000050
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID rs773850021
Origin Germline
Segregation -
Frequency 3/1204 cases with retinitis pigmentosa
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 ?/. - c.1187T>C r.(?) p.(Leu396Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000233510 DNA SEQ-NG - - IMPG2 1 Yoshito Koyanagi