RGD:151235846 Rat Genome Database

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Variant: RGD:151235846 -  Homo sapiens

RGD ID: 151235846
RS ID: rs2146716261
ClinVar ID: CV1319273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARSA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 51,063,755
GRCh38 22 50,625,327
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001085428.3:c.1090G>A
NM_001362782.2:c.1090G>A
NM_000487.6:c.1348G>A
NM_001085425.3:c.1348G>A
More... 		06/16/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARSA
Accession:XM_011530691
Location:3UTRS;EXON

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

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

Gene Symbol:ARSA
Accession:NM_001085427
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085428
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085426
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001085425
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_000487
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLT
GRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQN
LTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSF
AERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFW
PGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHF
FTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVA
RGEDPALQICCHPGCTPRPACCHCPDPHA*

Gene Symbol:ARSA
Accession:NM_001362782
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPP
ATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGR
GPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAP
GVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSA
HSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGTTPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPA
LQICCHPGCTPRPACCHCPDPHA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001797218 CLINVAR
dbSNP (RS) rs2146716261 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARSA CLINVAR
OMIM 607574 CLINVAR