RGD:150447317 Rat Genome Database

Variant: RGD:150447317 - Homo sapiens

RGD ID:

150447317

RS ID:

rs776380988

ClinVar ID:

CV1015243

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SPG7

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	89,620,205
GRCh38	16	89,553,797

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_001363850.1:c.1940C>A NM_003119.4:c.1940C>A NG_008082.1:g.50401C>A NC_000016.10:g.89553797C>A More...	01/04/2021	missense variant	pathogenic	Autosomal recessive spastic paraplegia type 7; Hereditary spastic paraplegia Paraplegin type

Disease Annotations Click to see Annotation Detail View

hereditary spastic paraplegia 7 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SPG7
Accession:	NM_001363850
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	647

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTPTFEGINGLLL KQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALST SGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLE VREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARAR APCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSF NEVTSGEQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD NLDKLQARALCVTWGSCLGPLDCRPQPAAAASGQVWAVPSPAEAGLPVDPCSSRLTKQLCRARAHHSGSHNGSKAAAGKR PSGKGSDKL*

Gene Symbol:	SPG7
Accession:	XM_047434537
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	356

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARFTIVDGKMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFL AMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVIV LASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALH AAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLP RDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGEQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPF SQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQARALCVTWGSCLGPLDCRPQPAAAASGQVWAVPSPAEAGLPVDPC SSRLTKQLCRARAHHSGSHNGSKAAAGKRPSGKGSDKL*

Gene Symbol:	SPG7
Accession:	XM_047434540
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	209

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTQRMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSG ADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITP RTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGEQDDLRKVTRIAYSMVKQFGMAPGIGPISFPE AQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMI APQRWIDAQREKQDLGEEETEETQQPPLGGEEPTWPK*

Gene Symbol:	SPG7
Accession:	NM_003119
Location:	EXON
Amino Acid Prediction:	A to E (nonsynonymous)
Amino Acid Position:	647

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTPTFEGINGLLL KQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALST SGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLE VREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARAR APCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSF NEVTSGEQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEETQQPPLGGEEPTWPK*

Gene Symbol:	SPG7
Accession:	XM_005256321
Location:	INTRON

Gene Symbol:	SPG7
Accession:	XM_017023598
Location:	INTRON

Gene Symbol:	SPG7
Accession:	XM_047434538
Location:	INTRON

Gene Symbol:	SPG7
Accession:	XM_047434539
Location:	INTRON

Gene Symbol:	SPG7
Accession:	NM_199367
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001647142	CLINVAR
dbSNP (RS)	rs776380988	CLINVAR
MedGen	C1846564	CLINVAR
NCBI Gene	SPG7	CLINVAR
OMIM	602783	CLINVAR
	607259	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:150447317 - Homo sapiens

Imported Disease Annotations - ClinVar