chr3:52021661:A>T Detail (hg19) (ACY1, ABHD14A-ACY1)

Information

Genome

Assembly Position
hg19 chr3:52,021,661-52,021,661
hg38 chr3:51,987,645-51,987,645 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000463937.1:c.1224+21A>T
Type Transcript Protein
RefSeq NM_001198898.1:c.816+21A>T
NM_001198897.1:c.726+21A>T
NM_001198896.1:c.705+21A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 38856 HGNC
Ensembl ENSG00000114786 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 104620 OMIM
HGNC 177 HGNC
Ensembl ENSG00000243989 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-11-22 criteria provided, single submitter Aminoacylase 1 deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000666.3(ACY1):c.921+21A>T AND Aminoacylase 1 deficiency ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1701122828 dbSNP
Genome
hg19
Position
chr3:52,021,661-52,021,661
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser