Variant #0000689118 (NC_000003.11:g.52023042G>A, ACY1(NM_000666.2):c.1178G>A)

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.52023042G>A
DNA change (hg38) -
Published as ACY1(NM_000666.2):c.1178G>A (p.R393H)
ISCN -
DB-ID ABHD14A-ACY1_000003 See all 2 reported entries
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) 0.00373 View details
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.1178G>A r.(?) p.(Arg393His)
RPL29 NM_000992.2 -?/. - c.*4723C>T r.(=) p.(=)
ABHD14A NM_015407.4 -?/. - c.*8008G>A r.(=) p.(=)
ABHD14A-ACY1 NR_037192.1 -?/. - n.1703G>A r.(?) -