Variant #0000091147 (NC_000020.10:g.25288620_25288626dup, ABHD12(NM_001042472.2):c.846_852dup)

Individual ID 00059912
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.25288620_25288626dup
DNA change (hg38) g.25307984_25307990dup
Published as 846_852dupTAAGAGC [His285fsX1]
ISCN -
DB-ID ABHD12_000004 See all 7 reported entries
Variant remarks -
Reference PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +/. 9 c.846_852dup r.(?) p.(His285*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059899 DNA SEQ - - ABHD12 1 Jacopo Celli