Variant #0000261731 (NC_000020.10:g.25371158G>T, ABHD12(NM_001042472.2):c.182C>A)

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.25371158G>T
DNA change (hg38) g.25390522G>T
Published as ABHD12(NM_001042472.3):c.182C>A (p.A61E)
ISCN -
DB-ID ABHD12_000029
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 ?/. - c.182C>A r.(?) p.(Ala61Glu)
PYGB NM_002862.3 ?/. - c.*94000G>T r.(=) p.(=)