Variant #0000915788 (NC_000003.11:g.101023130A>G, NM_016247.3:c.361T>C (IMPG2))

Individual ID 00429486
Chromosome 3
Allele Both (homozygous)
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.101023130A>G
DNA change (hg38) -
Published as c.361T>C
ISCN -
DB-ID IMPG2_000167 See all 2 reported entries
Variant remarks -
Reference PubMed: Panneman 2023
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Daan Panneman
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2023-01-11 18:53:49 +01:00 (CET)
Date last edited 2025-04-07 13:47:04 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 ?/. 3 c.361T>C r.(?) p.(Phe121Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000430899 DNA SEQ - RP-LCA smMIPs sequencing IMPG2 1 Daan Panneman


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