Variant #0000624133 (NC_000020.10:g.25289111G>A, ABHD12(NM_001042472.2):c.769C>T)

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.25289111G>A
DNA change (hg38) g.25308475G>A
Published as ABHD12(NM_001042472.3):c.769C>T (p.R257W)
ISCN -
DB-ID ABHD12_000017 See all 5 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) 0.00102 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.769C>T r.(?) p.(Arg257Trp)
PYGB NM_002862.3 ?/. - c.*11953G>A r.(=) p.(=)