RGD:150478316 Rat Genome Database

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Variant: RGD:150478316 -  Homo sapiens

RGD ID: 150478316
RS ID: rs461405
ClinVar ID: CV1281914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,613,233
GRCh38 16 89,546,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.89546825A>C
NM_001363850.1:c.1552+65A>C
NM_003119.4:c.1552+65A>C
NG_008082.1:g.43429A>C
More... 		06/23/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPG7
Accession:NM_199367
Location:INTRON

Gene Symbol:SPG7
Accession:NM_001363850
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434539
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434540
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434538
Location:INTRON

Gene Symbol:SPG7
Accession:NM_003119
Location:INTRON

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434537
Location:INTRON

Gene Symbol:SPG7
Accession:XM_017023598
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001714275 CLINVAR
dbSNP (RS) rs461405 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR