Variant #0000351514 (NC_000020.10:g.25295575G>A, ABHD12(NM_001042472.2):c.605C>T)

Individual ID 00151825
Chromosome 20
Allele Parent #2
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.25295575G>A
DNA change (hg38) g.25314939G>A
Published as -
ISCN -
DB-ID ABHD12_000034 See all 4 reported entries
Variant remarks -
Reference PubMed: Nishiguchi 2014
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 Johan den Dunnen
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.605C>T r.(?) p.(Thr202Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152682 DNA SEQ - WES ABHD12 2 Johan den Dunnen