Variant #0000820655 (NC_000003.11:g.100976483del, IMPG2(NM_016247.3):c.1045del)

Individual ID 00388871
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100976483del
DNA change (hg38) g.101257639del
Published as IMPG2, variant 1: c.745C>T p.L249F, variant 2: c.1045del/p.Y349Ifs*25
ISCN -
DB-ID IMPG2_000151
Variant remarks solved, compound heterozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.1045del r.(?) p.(Tyr349Ilefs*25)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000390114 DNA SEQ-NG blood RET3 targeted sequencing panel - see paper IMPG2 2 LOVD