Variant #0000247663 (NC_000020.10:g.25282944A>G, ABHD12(NM_001042472.2):c.1068T>C)

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.25282944A>G
DNA change (hg38) g.25302308A>G
Published as ABHD12(NM_001042472.3):c.1068T>C (p.D356=)
ISCN -
DB-ID ABHD12_000012 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) 0.45807 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.1068T>C r.(?) p.(Asp356=)
PYGB NM_002862.3 -/. - c.*5786A>G r.(=) p.(=)