RGD:11655406 Rat Genome Database

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Variant: RGD:11655406 -  Homo sapiens

RGD ID: 11655406
RS ID: rs886051009
ClinVar ID: CV322018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130056709  NIPA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 23,086,430
GRCh38 15 22,786,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142275.1:c.-48+390G>A
NG_009056.1:g.5414G>A
NC_000015.10:g.22786638G>A
NC_000015.9:g.23086430C>T
More... 		06/14/2016 5 prime utr variant|intron variant uncertain significance Autosomal dominant hereditary spastic paraplegia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPA1
Accession:NM_001142275
Location:5UTRS;INTRON

Gene Symbol:NIPA1
Accession:NM_144599
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000325461 CLINVAR
dbSNP (RS) rs886051009 CLINVAR
MedGen C0751602 CLINVAR
NCBI Gene LOC130056709 CLINVAR
  NIPA1 CLINVAR
OMIM 608145 CLINVAR
SNOMED CT 737227004 CLINVAR