Variant #0000515523 (NC_000002.11:g.27360995G>A, ABHD1(NM_032604.3):c.*7383G>A)

Chromosome 2
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.27360995G>A
DNA change (hg38) g.27138127G>A
Published as PRR30(NM_178553.4):c.203C>T (p.S68F)
ISCN -
DB-ID ABHD1_000001
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) 0.00043 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     
PREB NM_013388.4 ?/. - c.-3706C>T r.(?) p.(=)
ABHD1 NM_032604.3 ?/. - c.*7383G>A r.(=) p.(=)
C2orf53 NM_178553.3 ?/. - c.203C>T r.(?) p.(Ser68Phe)