RGD:28897779 Rat Genome Database

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Variant: RGD:28897779 -  Homo sapiens

RGD ID: 28897779
RS ID: rs1437353746
ClinVar ID: CV892614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 10,265,651
GRCh38 5 10,265,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306153.1:c.*756C>G
NM_012073.5:c.*756C>G
NG_012160.1:g.20370C>G
NC_000005.10:g.10265539C>G
More... 		01/13/2018 3 prime utr variant uncertain significance Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCT5
Accession:NM_012073
Location:3UTRS;EXON

Gene Symbol:CCT5
Accession:NM_001306153
Location:3UTRS;EXON

Gene Symbol:CCT5
Accession:NM_001306156
Location:3UTRS;EXON

Gene Symbol:CCT5
Accession:NM_001306154
Location:3UTRS;EXON

Gene Symbol:CCT5
Accession:NM_001306155
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001155169 CLINVAR
dbSNP (RS) rs1437353746 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR