Variant #0000351523 (NC_000020.10:g.25289122G>C, ABHD12(NM_001042472.2):c.758C>G)

Individual ID 00151830
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.25289122G>C
DNA change (hg38) g.25308486G>C
Published as -
ISCN -
DB-ID ABHD12_000039
Variant remarks -
Reference PubMed: Tingaud-Sequeira 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +/. 8 c.758C>G r.(?) p.(Thr253Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152687 DNA SEQ - - ABHD12 2 Johan den Dunnen