Variant #0000520300 (NC_000003.11:g.52014505C>T, ACY1(NM_000666.2):c.-3119C>T)

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.52014505C>T
DNA change (hg38) g.51980489C>T
Published as ABHD14A(NM_015407.4):c.494C>T (p.(Ala165Val))
ISCN -
DB-ID ABHD14A_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) 0.00111 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACY1 NM_000666.2 -?/. - c.-3119C>T r.(?) p.(=)
ABHD14A NM_015407.4 -?/. - c.494C>T r.(?) p.(Ala165Val)
ABHD14B NM_032750.2 -?/. - c.-6747G>A r.(?) p.(=)
ABHD14A-ACY1 NR_037192.1 -?/. - n.507+2115C>T r.(?) -