RGD:151821568 Rat Genome Database

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Variant: RGD:151821568 -  Homo sapiens

RGD ID: 151821568
RS ID: rs942740771
ClinVar ID: CV1385146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,623,403
GRCh38 16 89,556,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363850.1:c.*68A>G
NM_003119.4:c.2290A>G
NG_008082.1:g.53599A>G
NC_000016.10:g.89556995A>G
More... 		10/31/2021 3 prime utr 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:XM_047434537
Location:3UTRS;EXON

Gene Symbol:SPG7
Accession:NM_001363850
Location:3UTRS;EXON

Gene Symbol:SPG7
Accession:NM_003119
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 764
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRALQSLQLRLLTPTFEGINGLLL
KQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKAPEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALST
SGGSISWNDFVHEMLAKGEVQRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDGKMGKGVSFKDVAGMHEAKLE
VREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAKAVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARAR
APCIVYIDEIDAVGKKRSTTMSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKS
KILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSF
NEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWVDAQREKQDLGEEETEETQQPPLGGEEPTWPK*

Gene Symbol:SPG7
Accession:XM_047434540
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQRMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSG
ADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITP
RTNAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPE
AQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMI
APQRWVDAQREKQDLGEEETEETQQPPLGGEEPTWPK*

Gene Symbol:SPG7
Accession:XM_047434538
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434539
Location:INTRON

Gene Symbol:SPG7
Accession:NM_199367
Location:INTRON

Gene Symbol:SPG7
Accession:XM_017023598
Location:INTRON

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001975782 CLINVAR
dbSNP (RS) rs942740771 CLINVAR
MedGen C1846564 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR
  607259 CLINVAR