Full data view for gene ABHD16A

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

105 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Template     

Technique     

Tissue     

Disease     

Gender     

Remarks     

Panel size     

Owner     
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Maternal (inferred) g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Maternal (inferred) g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Both (homozygous) g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4927G>A -4927 r.(=) p.(=) - utr-5 - Unknown g.31675985C>T - ABHD16A_000020 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4707C>T -4707 r.(=) p.(=) - utr-5 - Unknown g.31675765G>A - ABHD16A_000019 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4443C>T -4443 r.(=) p.(=) - utr-5 - Unknown g.31675501G>A - LY6G6F_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4443C>T -4443 r.(=) p.(=) - utr-5 - Unknown g.31675501G>A - LY6G6F_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4443C>T -4443 r.(=) p.(=) - utr-5 - Unknown g.31675501G>A - LY6G6F_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4239G>A -4239 r.(=) p.(=) - utr-5 - Unknown g.31675297C>T - ABHD16A_000018 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4239G>A -4239 r.(=) p.(=) - utr-5 - Unknown g.31675297C>T - ABHD16A_000018 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.-4239G>A -4239 r.(=) p.(=) - utr-5 - Unknown g.31675297C>T - ABHD16A_000018 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.190-49delT 190 r.(=) p.(=) - intron 49 Unknown g.31669166del - ABHD16A_000015 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.190-49delT 190 r.(=) p.(=) - intron 49 Unknown g.31669166del - ABHD16A_000015 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.582C>T 582 r.(?) p.(=) - coding-synonymous - Unknown g.31660848G>A - ABHD16A_000014 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-47C>T 627 r.(=) p.(=) - intron 47 Paternal (inferred) g.31659742G>A - ABHD16A_000013 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.627-47C>T 627 r.(=) p.(=) - intron 47 Unknown g.31659742G>A - ABHD16A_000013 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Paternal (inferred) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Both (homozygous) g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.627-36A>C 627 r.(=) p.(=) - intron 36 Unknown g.31659731T>G - ABHD16A_000005 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.745A>G 745 r.(?) p.(Asn249Asp) - missense - Unknown g.31659454T>C - ABHD16A_000012 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Paternal (inferred) g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Unknown g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Unknown g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Unknown g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Unknown g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.908-20C>T 908 r.(=) p.(=) - intron 20 Unknown g.31657924G>A - ABHD16A_000011 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 3 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Unknown g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1026A>G 1026 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31657413T>C - ABHD16A_000002 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1236G>A 1236 r.(?) p.(=) - coding-synonymous - Unknown g.31656514C>T - ABHD16A_000010 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1236G>A 1236 r.(?) p.(=) - coding-synonymous - Unknown g.31656514C>T - ABHD16A_000010 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Both (homozygous) g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control M - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
./. - c.1527C>T 1527 r.(?) p.(=) - coding-synonymous - Unknown g.31655438G>A - ABHD16A_000001 - - DNA SEQ-NG - Healthy/Control F - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2     Next › Last »