Variant #0000569263 (NC_000020.10:g.25295602A>T, ABHD12(NM_001042472.2):c.578T>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.25295602A>T
DNA change (hg38) g.25314966A>T
Published as ABHD12(NM_001042472.3):c.578T>A (p.L193Q)
ISCN -
DB-ID PYGB_000019
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 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABHD12 NM_001042472.2 ?/. - c.578T>A r.(?) p.(Leu193Gln)
PYGB NM_002862.3 ?/. - c.*18444A>T r.(=) p.(=)