Variant #0000520306 (NC_000003.11:g.52022619T>C, ACY1(NM_000666.2):c.1001T>C)

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.52022619T>C
DNA change (hg38) g.51988603T>C
Published as ACY1(NM_000666.2):c.1001T>C (p.(Met334Thr))
ISCN -
DB-ID ABHD14A_000006
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) 1.0E-5 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.1001T>C r.(?) p.(Met334Thr)
ABHD14A NM_015407.4 -?/. - c.*7585T>C r.(=) p.(=)
ABHD14A-ACY1 NR_037192.1 -?/. - n.1526T>C r.(?) -