RGD:28900055 Rat Genome Database

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Variant: RGD:28900055 -  Homo sapiens

RGD ID: 28900055
RS ID: rs1858510966
ClinVar ID: CV867671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPS5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 18,300,228
GRCh38 11 18,278,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_586t1:c.*1201A>G
NM_007216.4:c.*1201A>G
NM_181507.2:c.*1201A>G
NM_181508.1:c.*1201A>G
More... 		01/13/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPS5
Accession:XM_017017150
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519863
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_017017152
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519865
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_047426324
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519862
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:NM_181508
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519867
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:NM_007216
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_017017151
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_017017153
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_047426325
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_017017149
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_017017154
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:NM_181507
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519868
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_011519864
Location:3UTRS;EXON

Gene Symbol:HPS5
Accession:XM_047426329
Location:INTRON

Gene Symbol:HPS5
Accession:XM_047426327
Location:INTRON

Gene Symbol:HPS5
Accession:XM_047426326
Location:INTRON

Gene Symbol:HPS5
Accession:XM_047426328
Location:INTRON

Gene Symbol:HPS5
Accession:XM_047426330
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001103646 CLINVAR
dbSNP (RS) rs1858510966 CLINVAR
MedGen C3888004 CLINVAR
NCBI Gene HPS5 CLINVAR
OMIM 607521 CLINVAR
  614074 CLINVAR