All transcript variants in gene ABHD14B

Information The variants shown are described using the NM_032750.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-12100G>A likely benign r.(?) p.(=) g.52019858C>T - ACY1(NM_000666.2):c.265-10C>T - chr3_006642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-10391G>C likely benign r.(?) p.(=) g.52018149C>G - ACY1(NM_000666.2):c.69C>G (p.=) - ABHD14A-ACY1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-10391G>C likely benign r.(?) p.(=) g.52018149C>G - ACY1(NM_000666.2):c.69C>G (p.=) - ABHD14A-ACY1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-6809G>A likely benign r.(?) p.(=) g.52014567C>T - ABHD14A(NM_015407.4):c.556C>T (p.(His186Tyr)) - chr3_006641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-6747G>A likely benign r.(?) p.(=) g.52014505C>T - ABHD14A(NM_015407.4):c.494C>T (p.(Ala165Val)) - chr3_006640 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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