Full data view for gene ABHD16A

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.353G>A r.(?) p.(Arg118His) Both (homozygous) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam1P1 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M no Canada French-Canadian - 0 - - 2 Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) Both (homozygous) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam1P2 PubMed: Lemire 2021 sister F no Canada French-Canadian - 0 - - 1 Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) Both (homozygous) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam2P3 PubMed: Lemire 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Canada French-Canadian - 0 - - 2 Johan den Dunnen
+?/. - c.353G>A r.(?) p.(Arg118His) Both (homozygous) - likely pathogenic (recessive) g.31664801C>T g.31697024C>T - - ABHD16A_000007 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam2P4 PubMed: Lemire 2021 sister F no Canada French-Canadian - 0 - - 1 Johan den Dunnen
+?/. - c.362A>T r.(?) p.(Asn121Ile) Both (homozygous) - likely pathogenic (recessive) g.31664792T>A g.31697015T>A - - ABHD16A_000006 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam5P8 PubMed: Lemire 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - 0 - - 2 Johan den Dunnen
+?/. - c.362A>T r.(?) p.(Asn121Ile) Both (homozygous) - likely pathogenic (recessive) g.31664792T>A g.31697015T>A - - ABHD16A_000006 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam5P9 PubMed: Lemire 2021 sister F yes Egypt - - 0 - - 1 Johan den Dunnen
+?/. - c.573del r.(?) p.(Thr192GlnfsTer25) Maternal (confirmed) - likely pathogenic (recessive) g.31660861del g.31693084del 573delG - ABHD16A_000005 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam4P7 PubMed: Lemire 2021 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no - Europe - 0 - - 1 Johan den Dunnen
+?/. - c.755G>A r.(?) p.(Arg252Gln) Both (homozygous) - likely pathogenic (recessive) g.31659444C>T g.31691667C>T - - ABHD16A_000004 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam6P10 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Pakistan - - 0 - - 2 Johan den Dunnen
+?/. - c.755G>A r.(?) p.(Arg252Gln) Both (homozygous) - likely pathogenic (recessive) g.31659444C>T g.31691667C>T - - ABHD16A_000004 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam6P11 PubMed: Lemire 2021 brother M yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.1226T>G r.(?) p.(Leu409Arg) Both (homozygous) - likely pathogenic (recessive) g.31656524A>C g.31688747A>C - - ABHD16A_000003 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam3P5 PubMed: Lemire 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Armenia - - 0 - - 2 Johan den Dunnen
+?/. - c.1226T>G r.(?) p.(Leu409Arg) Both (homozygous) - likely pathogenic (recessive) g.31656524A>C g.31688747A>C - - ABHD16A_000003 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam3P6 PubMed: Lemire 2021 brother M yes Armenia - - 0 - - 1 Johan den Dunnen
?/. - c.1276C>T - - Unknown - VUS g.31656057G>A - ABHD16A(NM_001177515.1):c.1177C>T (p.R393W) - ABHD16A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1333C>T r.(?) p.(Arg445Ter) Paternal (confirmed) - likely pathogenic (recessive) g.31655855G>A g.31688078G>A - - ABHD16A_000002 - PubMed: Lemire 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam4P7 PubMed: Lemire 2021 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no - Europe - 0 - - 1 Johan den Dunnen
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