All variants in the ABHD16A gene

Information The variants shown are described using the NM_021160.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.353G>A r.(?) p.(Arg118His) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.362A>T r.(?) p.(Asn121Ile) - likely pathogenic (recessive) g.31664792T>A g.31697015T>A - - ABHD16A_000006 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.362A>T r.(?) p.(Asn121Ile) - likely pathogenic (recessive) g.31664792T>A g.31697015T>A - - ABHD16A_000006 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.573del r.(?) p.(Thr192GlnfsTer25) - likely pathogenic (recessive) g.31660861del g.31693084del 573delG - ABHD16A_000005 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.755G>A r.(?) p.(Arg252Gln) - likely pathogenic (recessive) g.31659444C>T g.31691667C>T - - ABHD16A_000004 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.755G>A r.(?) p.(Arg252Gln) - likely pathogenic (recessive) g.31659444C>T g.31691667C>T - - ABHD16A_000004 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1226T>G r.(?) p.(Leu409Arg) - likely pathogenic (recessive) g.31656524A>C g.31688747A>C - - ABHD16A_000003 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1226T>G r.(?) p.(Leu409Arg) - likely pathogenic (recessive) g.31656524A>C g.31688747A>C - - ABHD16A_000003 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1276C>T - - - VUS g.31656057G>A - ABHD16A(NM_001177515.1):c.1177C>T (p.R393W) - ABHD16A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1333C>T r.(?) p.(Arg445Ter) - likely pathogenic (recessive) g.31655855G>A g.31688078G>A - - ABHD16A_000002 - PubMed: Lemire 2021 - - Germline - - - 0 - Johan den Dunnen
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