RGD:13786995 Rat Genome Database

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Variant: RGD:13786995 -  Homo sapiens

RGD ID: 13786995
RS ID: rs1555345993
ClinVar ID: CV547284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,953,082
GRCh38 14 74,486,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007117.1:g.12003G>T
NC_000014.9:g.74486379C>A
NC_000014.8:g.74953082C>A
NM_006432.3:c.140G>T
More...
08/16/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_006432
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPFQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL*

Gene Symbol:NPC2
Accession:NM_001363688
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPFQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSLSGGERAWVEG
RKWRRNQTETKSVP*

Gene Symbol:NPC2
Accession:NM_001375440
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPFQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSVSHL*

Variant Samples
Additional References at PubMed
PMID:12955717   PMID:15937921   PMID:17470133   PMID:26206375   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000664587 CLINVAR
dbSNP (RS) rs1555345993 CLINVAR
MedGen C1843366 CLINVAR
NCBI Gene NPC2 CLINVAR
OMIM 601015 CLINVAR
  607625 CLINVAR