All variants in the ABHD12 gene

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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.*454G>A r.(=) p.(=) - likely benign g.25281027C>T g.25300391C>T - - ABHD12_000043 136 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309917 Germline - 136/2792 individuals - 0 - Mohammed Faruq
-?/. - c.*454G>A r.(=) p.(=) - likely benign g.25281027C>T g.25300391C>T - - ABHD12_000043 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309917 Germline - 4/2792 individuals - 0 - Mohammed Faruq
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