Variant #0001058219 (NC_000003.11:g.52012000C>G, NM_015407.4:c.183C>G (ABHD14A))

Individual ID 00000045
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52012000C>G
Reference -
DB-ID ABHD14B_000004 See all 2 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.02016 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 21:41:23 +02:00 (CEST)
Date last edited N/A
Options




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.-4048G>C r.(=) -4048 - utr-5 p.(=) -
ABHD14B NM_001254753.1 ./. - c.-3923G>C r.(=) -3923 - utr-5 p.(=) -
ABHD14A NM_015407.4 ./. - c.183C>G r.(?) 183 - missense p.(Cys61Trp) -
ABHD14B NM_032750.2 ./. - c.-4242G>C r.(=) -4242 - utr-5 p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000057 DNA SEQ-NG - - 51286 LOVD