RGD:8560512 Rat Genome Database

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Variant: RGD:8560512 -  Homo sapiens

RGD ID: 8560512
RS ID: rs80358266
ClinVar ID: CV23519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,951,129
GRCh38 14 74,484,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007117.1:g.13956G>T
NC_000014.9:g.74484426C>A
NC_000014.8:g.74951129C>A
NP_006423.1:p.Glu118Ter
More... 		09/24/2020 nonsense|stop-gain pathogenic all ages|variable 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_006432
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKS*YPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL*

Gene Symbol:NPC2
Accession:NM_001375440
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKS*YPSVSHL*

Gene Symbol:NPC2
Accession:NM_001363688
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKS*YPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSLSGGERAWVEG
RKWRRNQTETKSVP*
Variant Samples
Additional References at PubMed
PMID:11567215   PMID:20301473   PMID:23433426   PMID:25145893   PMID:25741868   PMID:25772320   PMID:28492532   PMID:28808920  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009001 CLINVAR
  RCV001193596 CLINVAR
dbSNP (RS) rs80358266 CLINVAR
MedGen C0220756 CLINVAR
  C1843366 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 257220 CLINVAR
  601015 CLINVAR
  607625 CLINVAR
OMIM Allele 601015.0004 CLINVAR
SNOMED CT 66751000 CLINVAR