Variant #0001768976 (NC_000003.11:g.52011912G>A, NM_015407.4:c.95G>A (ABHD14A))

Individual ID 00000059
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52011912G>A
Reference -
DB-ID ABHD14B_000003
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.02738 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 04:14:57 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Position     

Splice distance     

GVS function     

Protein     

PolyPhen prediction     
ABHD14B NM_001146314.1 ./. - c.-3960C>T r.(=) -3960 - utr-5 p.(=) -
ABHD14B NM_001254753.1 ./. - c.-3835C>T r.(=) -3835 - utr-5 p.(=) -
ABHD14A NM_015407.4 ./. - c.95G>A r.(?) 95 - missense p.(Arg32Gln) -
ABHD14B NM_032750.2 ./. - c.-4154C>T r.(=) -4154 - utr-5 p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - 51302 LOVD