Variant #0000569276 (NC_000020.10:g.25371135_25371142del, ABHD12(NM_001042472.2):c.191+7_191+14del)

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.25371135_25371142del
DNA change (hg38) g.25390499_25390506del
Published as ABHD12(NM_001042472.3):c.191+7_191+14delCTTCGCGC
ISCN -
DB-ID PYGB_000032
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) 0.00272 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 -?/. - c.191+7_191+14del r.(=) p.(=)
PYGB NM_002862.3 -?/. - c.*93977_*93984del r.(=) p.(=)