Variant #0000261736 (NC_000020.10:g.25300947C>T, ABHD12(NM_001042472.2):c.430G>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.25300947C>T
DNA change (hg38) g.25320311C>T
Published as ABHD12(NM_001042472.3):c.430G>A (p.V144I)
ISCN -
DB-ID ABHD12_000020
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) 1.0E-5 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.430G>A r.(?) p.(Val144Ile)
PYGB NM_002862.3 ?/. - c.*23789C>T r.(=) p.(=)