RGD:151661257 Rat Genome Database

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Variant: RGD:151661257 -  Homo sapiens

RGD ID: 151661257
RS ID: rs745456534
ClinVar ID: CV1175030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABHD14A-ACY1  ACY1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 52,018,185
GRCh38 3 51,984,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012036.1:g.5623G>A
NC_000003.12:g.51984169G>A
NM_001198895.2:c.94+11G>A
NM_001198896.2:c.94+11G>A
More... 		07/01/2021 intron variant uncertain significance ACY1 deficiency; Deficiency of the aminoacylase-1 enzyme; Neurological conditions associated with aminoacylase 1 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACY1
Accession:NM_000666
Location:INTRON

Gene Symbol:ACY1
Accession:NM_001198897
Location:INTRON

Gene Symbol:ACY1
Accession:NM_001198896
Location:INTRON

Gene Symbol:ACY1
Accession:NM_001198898
Location:INTRON

Gene Symbol:ACY1
Accession:NM_001198895
Location:INTRON

Gene Symbol:ABHD14A-ACY1
Accession:NM_001316331
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001822959 CLINVAR
dbSNP (RS) rs745456534 CLINVAR
MedGen C1835922 CLINVAR
NCBI Gene ABHD14A-ACY1 CLINVAR
  ACY1 CLINVAR
OMIM 104620 CLINVAR
  609924 CLINVAR