Variant #0000847469 (NC_000020.10:g.25319930G>C, ABHD12(NM_001042472.2):c.249C>G)

Individual ID 00408939
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.25319930G>C
DNA change (hg38) -
Published as c.249C>G
ISCN -
DB-ID ABHD12_000055 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +/. 2 c.249C>G r.(?) p.(Tyr83*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000410204 DNA SEQ;SEQ-NG peripheral blood leukocytes WES ABHD12 1 LOVD