Full data view for gene IMPG2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_016247.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.533+4_533+7del r.spl? p.(?) Both (homozygous) - likely pathogenic g.101010319_101010322del g.101291475_101291478del Allele 1 c.533+4_533+7del (p.?), Allele 2 c.533+4_533+7del (p.?) - IMPG2_000147 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - 0 - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - 0 - - 1 LOVD
+?/. - c.533+4_533+7del r.spl? p.(?) Parent #1 - likely pathogenic g.101010319_101010322del g.101291475_101291478del IMPG2, variant 1: c.533+4_533+7del/p.?, variant 2: c.533+4_533+7del/p.? - IMPG2_000147 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 743 PubMed: Weisschuh 2020 Filing key number: 287, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.533+4_533+7del r.(?) p.? Both (homozygous) - likely pathogenic g.101010319_101010322del g.101291475_101291478del IMPG2 c.533+4_533+7del, p.? - IMPG2_000147 homozygous PubMed: Khan 2019 - - Germline yes - - 0 - DNA SEQ blood - retinal disease 3.1 PubMed: Khan 2019 Family 2, father F yes United Arab Emirates - - 0 - - 1 LOVD
+?/. - c.533+4_533+7del r.(?) p.? Unknown - likely pathogenic g.101010319_101010322del g.101291475_101291478del IMPG2 c.533+4_533+7del, p.? - IMPG2_000147 heterozygous PubMed: Khan 2019 - - Germline yes - - 0 - DNA SEQ blood - retinal disease 3.father PubMed: Khan 2019 Family 3, individual 3.1 (proband) M yes United Arab Emirates - - 0 - - 1 LOVD
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