Variant #0000735584 (NC_000020.10:g.25300930C>T, ABHD12(NM_001042472.2):c.447G>A)

Individual ID 00335080
Chromosome 20
Allele Parent #1
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.25300930C>T
DNA change (hg38) g.25320294C>T
Published as -
ISCN -
DB-ID ABHD12_000008 See all 4 reported entries
Variant remarks -
Reference PubMed: Haer-Wigman 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.447G>A r.(?) p.(Trp149*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336309 DNA SEQ-NG - gene panel ABHD12 2 LOVD