Variant #0000713585 (NC_000020.10:g.25319986G>A, ABHD12(NM_001042472.2):c.193C>T)

Individual ID 00328247
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.25319986G>A
DNA change (hg38) -
Published as 20:25319986G>A ENST00000376542.3:c.193C>T (Arg65Ter)
ISCN -
DB-ID ABHD12_000036 See all 2 reported entries
Variant remarks -
Reference PubMed: Carss 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner LOVD
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.193C>T r.(?) p.(Arg65*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329462 DNA SEQ-NG - WGS ABHD12 1 LOVD