RGD:152111180 Rat Genome Database

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Variant: RGD:152111180 -  Homo sapiens

RGD ID: 152111180
RS ID: rs2152394850
ClinVar ID: CV1537117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPG7  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,579,463
GRCh38 16 89,513,055
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.376+18T>A
NM_003119.4:c.376+18T>A
NM_199367.3:c.376+18T>A
NG_008082.1:g.9659T>A
More... 		07/06/2021 intron variant likely benign 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_199367
Location:INTRON

Gene Symbol:SPG7
Accession:NM_001363850
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434539
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434537
Location:INTRON

Gene Symbol:SPG7
Accession:XM_005256321
Location:INTRON

Gene Symbol:SPG7
Accession:XM_047434540
Location:INTRON

Gene Symbol:SPG7
Accession:NM_003119
Location:INTRON

Gene Symbol:SPG7
Accession:XM_017023598
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 RCV002215510 CLINVAR
dbSNP (RS) rs2152394850 CLINVAR
MedGen C1846564 CLINVAR
NCBI Gene SPG7 CLINVAR
OMIM 602783 CLINVAR
  607259 CLINVAR