RGD:13820509 Rat Genome Database

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Variant: RGD:13820509 -  Homo sapiens

RGD ID: 13820509
RS ID: rs372033226
ClinVar ID: CV568464
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,623,478
GRCh38 16 89,557,070
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008082.1:g.53674G>A
NC_000016.10:g.89557070G>A
NC_000016.9:g.89623478G>A
NP_003110.1:p.Glu789Lys
More... 		05/31/2018 3 prime utr variant|missense variant uncertain significance Autosomal recessive spastic paraplegia type 7; Hereditary spastic paraplegia Paraplegin type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPG7
Accession:NM_001363850
Location:3UTRS;EXON

Gene Symbol:SPG7
Accession:XM_047434537
Location:3UTRS;EXON

Gene Symbol:SPG7
Accession:XM_047434540
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQRMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSG
ADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITP
RTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPE
AQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMI
APQRWIDAQREKQDLGEEETEETQQPPLGGKEPTWPK*

Gene Symbol:SPG7
Accession:NM_003119
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 789
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTPTFEGINGLLL
KQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALST
SGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLE
VREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARAR
APCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS
KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSF
NEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEETQQPPLGGKEPTWPK*

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Gene Symbol:SPG7
Accession:NM_199367
Location:INTRON

Gene Symbol:SPG7
Accession:XM_017023598
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434539
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434538
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000694919 CLINVAR
dbSNP (RS) rs372033226 CLINVAR
MedGen C1846564 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR
  607259 CLINVAR