Variant #0000569272 (NC_000020.10:g.25371130_25371132del, ABHD12(NM_001042472.2):c.191+17_191+19del)

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.25371130_25371132del
DNA change (hg38) g.25390494_25390496del
Published as ABHD12(NM_001042472.3):c.191+17_191+19delAGC
ISCN -
DB-ID PYGB_000029
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00759 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 -/. - c.191+17_191+19del r.(=) p.(=)
PYGB NM_002862.3 -/. - c.*93972_*93974del r.(=) p.(=)