RGD:156374235 Rat Genome Database

Variant: RGD:156374235 - Homo sapiens

RGD ID:

156374235

ClinVar ID:

CV2198320

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UXS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	106,742,112
GRCh38	2	106,125,656

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001377509.1:c.262C>T NM_001377506.1:c.421C>T NM_001377505.1:c.586C>T NM_001377508.1:c.586C>T More...	08/26/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	UXS1
Accession:	NM_025076
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	196

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPV KFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLA SPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAET MCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSP VNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQAN NQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001253875
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMSFLLNRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQ KYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQ IYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGK RVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNS NVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKEL EYQANNQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001253876
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	28

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQ EGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNPEE HTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPKPK PARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	XM_011511903
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLATQTHTEMKSPANLLALPRSDSRAVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPVKFLSEK DRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPP NYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYM KQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNP EEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPK PKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	XM_011511902
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLATQTHTEMKSPANLLALPRSDSRAVWGNFVNMSFLLNRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPVK FLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLAS PASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETM CYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPV NLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANN QYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	XM_024453157
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	28

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQ EGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNPEE HTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPKPK PARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001377505
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	196

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPV KFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLA SPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAET MCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSP VNLVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001377508
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	196

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPV KFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLA SPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAET MCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSP VNLGNPEEHTILEFAQLIKNLVGPAGGRFKQSNSLLP*

Gene Symbol:	UXS1
Accession:	NM_001377504
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMSFLLNRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQ KYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQ IYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGK RVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNS NVSSPVNLVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001377507
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMSFLLNRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQ KYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQ IYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGK RVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNS NVSSPVNLGNPEEHTILEFAQLIKNLVGPAGGRFKQSNSLLP*

Gene Symbol:	UXS1
Accession:	NM_001377506
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTFLRHFLWAASTKDGRFTQKYPPVKFLSEKDRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGH ENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQS EDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQ TRAFQYVSDLVNGLVALMNSNVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWE PVVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	NM_001377509
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPPNYMYNPIKTLKTNTIGTLNMLG LAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHM NDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNPEEHTILEFAQLIKNLVGSGSEI QFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKAIHYFRKELEYQANNQYIPKPKPARIKKGRTRHS*

Gene Symbol:	UXS1
Accession:	XM_047445918
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLATQTHTEMKSPANLLALPRSDSRAVWGNFVNMRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPVKFLSEK DRKRILITGGAGFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQIYHLASPASPP NYMYNPIKTLKTNTIGTLNMLGLAKRVGACLLLASTSEVYGDPEVHPQSEDYWGHVNPIGPRACYDEGKRVAETMCYAYM KQEGVEVRVARIFNTFGPRMHMNDGRVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNP EEHTILEFAQLIKNLVGPAGGRFKQSNSLLP*

Gene Symbol:	UXS1
Accession:	NR_045607
Location:	EXON;NON-CODING

Gene Symbol:	UXS1
Accession:	NR_165308
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004081871	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	UXS1	CLINVAR
OMIM	609749	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156374235 - Homo sapiens