Variant #0000261737 (NC_000020.10:g.25289132T>C, ABHD12(NM_001042472.2):c.750-2A>G)

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.25289132T>C
DNA change (hg38) g.25308496T>C
Published as ABHD12(NM_001042472.3):c.750-2A>G
ISCN -
DB-ID ABHD12_000018
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) Variant not found in online data sets
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.750-2A>G r.spl? p.?
PYGB NM_002862.3 ?/. - c.*11974T>C r.(=) p.(=)