Variant #0000350504 (NC_000020.10:g.25282937del, ABHD12(NM_001042472.2):c.1075del)

Chromosome 20
Allele Unknown
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.25282937del
DNA change (hg38) g.25302301del
Published as ABHD12(NM_001042472.3):c.1075delG (p.V359Ffs*27)
ISCN -
DB-ID ABHD12_000011 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 +/. - c.1075del r.(?) p.(Val359PhefsTer27)
PYGB NM_002862.3 +/. - c.*5779del r.(?) p.(=)