Variant #0000689117 (NC_000003.11:g.52023041C>T, ACY1(NM_000666.2):c.1177C>T)

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.52023041C>T
DNA change (hg38) -
Published as ACY1(NM_000666.2):c.1177C>T (p.R393C)
ISCN -
DB-ID ABHD14A_000010
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) 0.00049 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     
ACY1 NM_000666.2 ?/. - c.1177C>T r.(?) p.(Arg393Cys)
RPL29 NM_000992.2 ?/. - c.*4724G>A r.(=) p.(=)
ABHD14A NM_015407.4 ?/. - c.*8007C>T r.(=) p.(=)
ABHD14A-ACY1 NR_037192.1 ?/. - n.1702C>T r.(?) -