Variant #0000684615 (NC_000020.10:g.25304045_25304046delinsAAA, ABHD12(NM_001042472.2):c.337_338delinsTTT)

Individual ID 00308597
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.25304045_25304046delinsAAA
DNA change (hg38) -
Published as c.337_338delGAinsTTT
ISCN -
DB-ID ABHD12_000001 See all 9 reported entries
Variant remarks -
Reference PubMed: Holtan 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/899 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +?/. - c.337_338delinsTTT r.(?) p.(Asp113Phefs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309742 DNA SEQ - - ABHD12 1 Global Variome, with Curator vacancy