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.

3 entries on 1 page. Showing entries 1 - 3.
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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.202G>A r.(?) p.(Val68Met) - benign g.25319977C>T g.25339341C>T ABHD12(NM_001042472.3):c.202G>A (p.V68M) - ABHD12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.202G>A r.(?) p.(Val68Met) - benign g.25319977C>T g.25339341C>T ABHD12(NM_001042472.3):c.202G>A (p.V68M) - ABHD12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.202G>A r.(?) p.(Val68Met) - VUS g.25319977C>T g.25339341C>T - - ABHD12_000025 - PubMed: Wang 2014 - rs11904930 Germline - - - 0 - LOVD
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