RGD:150413215 Rat Genome Database

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Variant: RGD:150413215 -  Homo sapiens

RGD ID: 150413215
RS ID: rs115214478
ClinVar ID: CV1191884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,596,308
GRCh38 16 89,529,900
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.861+321T>C
NM_003119.4:c.861+321T>C
NM_199367.3:c.861+321T>C
NG_008082.1:g.26504T>C
More... 		07/07/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPG7
Accession:XM_047434537
Location:5UTRS;INTRON

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Gene Symbol:SPG7
Accession:NM_001363850
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

Gene Symbol:SPG7
Accession:XM_017023598
Location:INTRON

Gene Symbol:SPG7
Accession:NM_003119
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434540
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001567133 CLINVAR
dbSNP (RS) rs115214478 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR