All variants in the ABHD14A gene

Information The variants shown are described using the NM_015407.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.494C>T r.(?) p.(Ala165Val) - likely benign g.52014505C>T g.51980489C>T ABHD14A(NM_015407.4):c.494C>T (p.(Ala165Val)) - ABHD14A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3115C>G r.(=) p.(=) - likely benign g.52018149C>G g.51984133C>G ACY1(NM_000666.2):c.69C>G (p.R23=) - ABHD14A-ACY1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.*4824C>T r.(=) p.(=) - likely benign g.52019858C>T g.51985842C>T ACY1(NM_000666.2):c.265-10C>T - ABHD14A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*6160G>A r.(=) p.(=) - VUS g.52021194G>A g.51987178G>A ACY1(NM_000666.2):c.689G>A (p.R230Q) - ABHD14A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*6342_*6345del r.(=) p.(=) - VUS g.52021376_52021379del g.51987360_51987363del ACY1(NM_000666.2):c.759_762delGACT (p.T254Sfs*2) - ABHD14A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*7585T>C r.(=) p.(=) - likely benign g.52022619T>C g.51988603T>C ACY1(NM_000666.2):c.1001T>C (p.(Met334Thr)) - ABHD14A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*7803C>T r.(=) p.(=) - VUS g.52022837C>T g.51988821C>T ACY1(NM_000666.2):c.1057C>T (p.R353C) - ABHD14A-ACY1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.*7803C>T r.(=) p.(=) - pathogenic g.52022837C>T - ACY1(NM_000666.2):c.1057C>T (p.R353C) - ABHD14A-ACY1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*7807C>T r.(=) p.(=) - VUS g.52022841C>T g.51988825C>T - - ABHD14A-ACY1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.*7986del r.(?) p.(=) - VUS g.52023020del - ACY1(NM_000666.2):c.1156delC (p.R386Vfs*29) - ABHD14A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*8007C>T r.(=) p.(=) - VUS g.52023041C>T - ACY1(NM_000666.2):c.1177C>T (p.R393C) - ABHD14A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*8008G>A r.(=) p.(=) - VUS g.52023042G>A g.51989026G>A ACY1(NM_000666.2):c.1178G>A (p.R393H) - ABHD14A-ACY1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.*8008G>A r.(=) p.(=) - likely benign g.52023042G>A - ACY1(NM_000666.2):c.1178G>A (p.R393H) - ABHD14A-ACY1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*12836_*12847del r.(=) p.(=) - likely benign g.52027870_52027881del g.51993854_51993865del RPL29(NM_000992.2):c.380_391del (p.(Ala127_Lys130del)) - ABHD14A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*12842_*12847del r.(=) p.(=) - likely benign g.52027876_52027881del g.51993860_51993865del RPL29(NM_000992.2):c.386_391del (p.(Ala129_Lys130del)) - RPL29_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*12842_*12847dup r.(=) p.(=) - likely benign g.52027876_52027881dup g.51993860_51993865dup RPL29(NM_000992.2):c.386_391dup (p.(Ala129_Lys130dup)) - RPL29_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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