RGD:8556868 Rat Genome Database

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Variant: RGD:8556868 -  Homo sapiens

RGD ID: 8556868
RS ID: rs104894490
ClinVar ID: CV17562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 23,060,816
GRCh38 15 22,812,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009056.1:g.31028G>A
NC_000015.10:g.22812252G>A
NC_000015.9:g.23060816C>T
NP_653200.2:p.Gly106Arg
More... 		09/03/2019 missense|missense variant pathogenic <1 / 1 000 000 Familial spastic paraparesis; Familial spastic paraplegia autosomal dominant 3; none provided; SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NIPA1
Accession:NM_144599
Location:EXON

Gene Symbol:NIPA1
Accession:NM_001142275
Location:EXON

Variant Samples
Additional References at PubMed
PMID:15643603   PMID:15711826   PMID:16267846   PMID:17092466   PMID:17166836   PMID:18191948   PMID:19091982   PMID:19620182   PMID:20816793   PMID:21599812   PMID:22302102   PMID:24075313  
PMID:24128679   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28832565   PMID:29934652   PMID:31104286   PMID:31630374   PMID:32500351   PMID:32581362  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000002631 CLINVAR
  RCV000516051 CLINVAR
  RCV000713477 CLINVAR
  RCV001003981 CLINVAR
dbSNP (RS) rs104894490 CLINVAR
MedGen C0037772 CLINVAR
  C0037773 CLINVAR
  C1838192 CLINVAR
  C3661900 CLINVAR
NCBI Gene NIPA1 CLINVAR
OMIM 600363 CLINVAR
  608145 CLINVAR
OMIM Allele 608145.0003 CLINVAR
SNOMED CT 39912006 CLINVAR