Variant #0000476227 (NC_000003.11:g.101039196A>C, IMPG2(NM_016247.3):c.21T>G)

Individual ID 00232420
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.101039196A>C
DNA change (hg38) g.101320352A>C
Published as -
ISCN -
DB-ID IMPG2_000059 See all 2 reported entries
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID rs193120038
Origin Germline
Segregation -
Frequency 22/1204 cases with retinitis pigmentosa
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 ?/. - c.21T>G r.(?) p.(Phe7Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000233519 DNA SEQ-NG - - IMPG2 1 Yoshito Koyanagi