RGD:28879044 Rat Genome Database

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Variant: RGD:28879044 -  Homo sapiens

RGD ID: 28879044
RS ID: rs183937648
ClinVar ID: CV891521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 51,061,859
GRCh38 22 50,623,431
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000487.6:c.*1714G>A
NM_001085425.3:c.*1714G>A
NM_001085426.3:c.*1714G>A
NM_001085427.3:c.*1714G>A
More... 		01/12/2018 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:ARSA
Accession:NM_001085425
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:XM_047441363
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:NM_001085426
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:XM_011530691
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:XM_024452241
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:NM_000487
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:NM_001362782
Location:3UTRS;EXON

Gene Symbol:ARSA
Accession:NM_001085428
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001148874 CLINVAR
dbSNP (RS) rs183937648 CLINVAR
MedGen C0023522 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 250100 CLINVAR
  607574 CLINVAR
SNOMED CT 396338004 CLINVAR