Variant #0000569267 (NC_000020.10:g.25304045_25304046del, ABHD12(NM_001042472.2):c.337_338del)

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.25304045_25304046del
DNA change (hg38) g.25323409_25323410del
Published as ABHD12(NM_001042472.3):c.337_338delGA (p.D113Ffs*14)
ISCN -
DB-ID PYGB_000023 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 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.337_338del r.(?) p.(Asp113PhefsTer14)
PYGB NM_002862.3 +/. - c.*26887_*26888del r.(=) p.(=)