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.447G>A r.(?) p.(Trp159*) - pathogenic g.25300900C>T - - - ABHD12_000008 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nishiguchi 2014 ClinVar-RCV000132768.3 - Germline - - - 0 - Lonneke Haer-Wigman
+/. - c.447G>A r.(?) p.(Trp149*) - pathogenic g.25300930C>T g.25320294C>T - - ABHD12_000008 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD
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