Full data view for gene ABHD12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001042472.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.193C>T r.(?) p.(Arg65*) Both (homozygous) - pathogenic g.25319986G>A g.25339350G>A - - ABHD12_000036 - PubMed: Eisenberger 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - wes PHARC 22938382-Fam PubMed: Eisenberger 2012 4-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Lebanon - - 0 - - 2 Johan den Dunnen
+/. - c.193C>T r.(?) p.(Arg65*) Both (homozygous) - pathogenic (recessive) g.25319986G>A - 20:25319986G>A ENST00000376542.3:c.193C>T (Arg65Ter) - ABHD12_000036 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WGS retinal disease G008991 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - 0 - - 1 LOVD
+/. - c.193C>T r.(?) p.(Arg65*) Both (homozygous) - pathogenic g.25319986G>A g.25339350G>A ABHD12 c.193C>T, p.Arg65Ter - ABHD12_000036 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008991 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - 0 - - 1 LOVD
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