RGD:126728332 Rat Genome Database

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Variant: RGD:126728332 -  Homo sapiens

RGD ID: 126728332
RS ID: rs2082703346
ClinVar ID: CV1018861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 51,066,223
GRCh38 22 50,627,795
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.-16C>G
NM_001085428.3:c.-35+151C>G
NG_009260.2:g.5385C>G
NC_000022.10:g.51066223G>C
More... 		02/28/2020 5 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_000487
Location:5UTRS;EXON

Gene Symbol:ARSA
Accession:XM_011530691
Location:5UTRS;EXON

Gene Symbol:ARSA
Accession:NM_001085427
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:NM_001085428
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:NM_001085426
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:NM_001085425
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:XM_024452241
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:NM_001362782
Location:5UTRS;INTRON

Gene Symbol:ARSA
Accession:XM_047441363
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332800 CLINVAR
dbSNP (RS) rs2082703346 CLINVAR
MedGen C0023522 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 250100 CLINVAR
  607574 CLINVAR
SNOMED CT 396338004 CLINVAR