RGD:8623954 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8623954 -  Homo sapiens

RGD ID: 8623954
RS ID: rs199476386
ClinVar ID: CV79042
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  LOC127897061  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 51,065,026
GRCh38 22 50,626,598
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009260.2:g.6582G>T
NC_000022.11:g.50626598C>A
NC_000022.10:g.51065026C>A
p.D281Y
More... 		01/13/2021 missense|missense variant conflicting interpretations of pathogenicity|uncertain significance|not provided Arylsulfatase A Deficiency; Cerebral sclerosis diffuse metachromatic form; Cerebroside sulfatase deficiency; Metachromatic leukoencephalopathy; none provided; Sulfatide lipidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARSA
Accession:XM_011530691
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*

Gene Symbol:ARSA
Accession:NM_000487
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001362782
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:XM_047441363
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*

Gene Symbol:ARSA
Accession:NM_001085427
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085425
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085428
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085426
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:XM_024452241
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTAYNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*
Variant Samples
Additional References at PubMed
PMID:10533072   PMID:12809637   PMID:16966551   PMID:21080229   PMID:26467025   PMID:28492532   PMID:28670130   PMID:30057904   PMID:31694723  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000058982 CLINVAR
  RCV000668155 CLINVAR
dbSNP (RS) rs199476386 CLINVAR
MedGen C0023522 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 250100 CLINVAR
  607574 CLINVAR
SNOMED CT 396338004 CLINVAR