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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+/. 3 c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - pathogenic g.25304045_25304046delinsAAA g.25323409_25323410delinsAAA 337_338delGAinsTTT [Asp113PhefsX15] - ABHD12_000001 - PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 - - Unknown - - - 0 - Jacopo Celli
+?/. - c.337_338delinsTTT r.(?) p.(Asp113Phefs*15) - likely pathogenic (recessive) g.25304045_25304046delinsAAA - c.337_338delGAinsTTT - ABHD12_000001 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
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