Variant #0000798019 (NC_000003.11:g.100976615C>T, IMPG2(NM_016247.3):c.911G>A)

Individual ID 00382554
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.100976615C>T
DNA change (hg38) g.101257771C>T
Published as IMPG2 c.911G>A, p.(Gly304Asp)
ISCN -
DB-ID IMPG2_000144
Variant remarks single heterozygous variant (recessive)
Reference PubMed: Jespersgaar 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IMPG2 NM_016247.3 +?/. - c.911G>A r.(?) p.(Gly304Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000383768 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data IMPG2 1 LOVD