Variant #0000677063 (NC_000003.11:g.52023020del, ACY1(NM_000666.2):c.1156del)

Chromosome 3
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.52023020del
DNA change (hg38) -
Published as ACY1(NM_000666.2):c.1156delC (p.R386Vfs*29)
ISCN -
DB-ID ABHD14A_000009
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) 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACY1 NM_000666.2 ?/. - c.1156del r.(?) p.(Arg386ValfsTer29)
RPL29 NM_000992.2 ?/. - c.*4746del r.(?) p.(=)
ABHD14A NM_015407.4 ?/. - c.*7986del r.(?) p.(=)
ABHD14A-ACY1 NR_037192.1 ?/. - n.1681del r.(?) -