Full data view for gene ABHD14A-ACY1

Information The variants shown are described using the NR_037192.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - n.594C>G likely benign r.(?) - Unknown g.52018149C>G - ACY1:c.69C>G (R23=) - ABHD14A-ACY1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - n.1582C>T pathogenic r.(?) - Unknown g.52022837C>T - ACY1:c.1057C>T (R353C) - ABHD14A-ACY1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - n.1586C>T VUS r.(?) - Unknown g.52022841C>T - ACY1:NM_000666.2:c.1061C>T (Ala354Val) - ABHD14A-ACY1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - n.1703G>A VUS r.(?) - Unknown g.52023042G>A - ACY1:c.1178G>A (R393H) - ABHD14A-ACY1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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