RGD:152133235 Rat Genome Database

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Variant: RGD:152133235 -  Homo sapiens

RGD ID: 152133235
RS ID: rs572299295
ClinVar ID: CV1585213
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 74,953,015
GRCh38 14 74,486,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363688.1:c.190+17C>G
NM_001375440.1:c.190+17C>G
NM_006432.5:c.190+17C>G
NG_007117.1:g.12070C>G
More... 		07/21/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_001363688
Location:INTRON

Gene Symbol:NPC2
Accession:NM_006432
Location:INTRON

Gene Symbol:NPC2
Accession:NM_001375440
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002083154 CLINVAR
dbSNP (RS) rs572299295 CLINVAR
MedGen C1843366 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 601015 CLINVAR
  607625 CLINVAR