RGD:42723855 Rat Genome Database

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Variant: RGD:42723855 -  Homo sapiens

RGD ID: 42723855
RS ID: rs2082680103
ClinVar ID: CV983842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  LOC127897061  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 51,065,339
GRCh38 22 50,626,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001085425.3:c.607T>C
NC_000022.11:g.50626911A>G
NC_000022.10:g.51065339A>G
NP_001078897.1:p.Tyr117His
More... 		01/13/2022 missense variant pathogenic|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:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085428
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085426
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085425
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_000487
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:XM_011530691
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*

Gene Symbol:ARSA
Accession:XM_024452241
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*

Gene Symbol:ARSA
Accession:NM_001362782
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:XM_047441363
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARHMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKALPTVIPLQTLPATPPAL*
Variant Samples
Additional References at PubMed
PMID:18786133   PMID:23559313   PMID:25741868   PMID:28492532   PMID:31694723  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001290420 CLINVAR
dbSNP (RS) rs2082680103 CLINVAR
MedGen C0023522 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 250100 CLINVAR
  607574 CLINVAR
SNOMED CT 396338004 CLINVAR