RGD:150516507 Rat Genome Database

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Variant: RGD:150516507 -  Homo sapiens

RGD ID: 150516507
RS ID: rs647747
ClinVar ID: CV1227098
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,603,064
GRCh38 16 89,536,656
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.1324+4020A>G
NM_003119.4:c.1324+4020A>G
NM_199367.3:c.1325-109A>G
NG_008082.1:g.33260A>G
More...
06/23/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPG7
Accession:XM_017023598
Location:INTRON

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Gene Symbol:SPG7
Accession:NM_001363850
Location:INTRON

Gene Symbol:SPG7
Accession:NM_003119
Location:INTRON

Gene Symbol:SPG7
Accession:NM_199367
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434538
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434539
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434537
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434540
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001639196 CLINVAR
dbSNP (RS) rs647747 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR