Variant #0000358268 (NC_000003.11:g.101023121A>G, IMPG2(NM_016247.3):c.370T>C)

Individual ID 00155481
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.101023121A>G
DNA change (hg38) g.101304277A>G
Published as -
ISCN -
DB-ID IMPG2_000038 See all 4 reported entries
Variant remarks -
Reference PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Dror Sharon
Database submission license No license selected
Created by Dror Sharon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 +?/. 3 c.370T>C r.(?) p.(Phe124Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156346 DNA SEQ - - IMPG2 1 Dror Sharon