Variant #0000261940 (NC_000003.11:g.52018149C>G, ACY1(NM_000666.2):c.69C>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52018149C>G
DNA change (hg38) g.51984133C>G
Published as ACY1(NM_000666.2):c.69C>G (p.R23=)
ISCN -
DB-ID ABHD14A-ACY1_000001
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) 0.00314 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.69C>G r.(?) p.(Arg23=)
ABHD14A NM_015407.4 -?/. - c.*3115C>G r.(=) p.(=)
ABHD14B NM_032750.2 -?/. - c.-10391G>C r.(?) p.(=)
ABHD14A-ACY1 NR_037192.1 -?/. - n.594C>G r.(?) -