RGD:13782596 Rat Genome Database

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Variant: RGD:13782596 -  Homo sapiens

RGD ID: 13782596
RS ID: rs1555900989
ClinVar ID: CV549451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 51,065,592
GRCh38 22 50,627,164
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000487.5:c.465+2T>A
NG_009260.2:g.6016T>A
NC_000022.11:g.50627164A>T
NC_000022.10:g.51065592A>T
More... 		08/30/2017 splice donor variant likely pathogenic Arylsulfatase A Deficiency; Cerebral sclerosis diffuse metachromatic form; Cerebroside sulfatase deficiency; Metachromatic leukoencephalopathy; Sulfatide lipidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARSA
Accession:NM_001085427
Location:INTRON

Gene Symbol:ARSA
Accession:NM_001362782
Location:INTRON

Gene Symbol:ARSA
Accession:XM_024452241
Location:INTRON

Gene Symbol:ARSA
Accession:XM_047441363
Location:INTRON

Gene Symbol:ARSA
Accession:NM_001085428
Location:INTRON

Gene Symbol:ARSA
Accession:NM_001085425
Location:INTRON

Gene Symbol:ARSA
Accession:XM_011530691
Location:INTRON

Gene Symbol:ARSA
Accession:NM_000487
Location:INTRON

Gene Symbol:ARSA
Accession:NM_001085426
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000669056 CLINVAR
dbSNP (RS) rs1555900989 CLINVAR
MedGen C0023522 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 250100 CLINVAR
  607574 CLINVAR
SNOMED CT 396338004 CLINVAR