RGD:11594249 Rat Genome Database

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Variant: RGD:11594249 -  Homo sapiens

RGD ID: 11594249
RS ID: rs377154717
ClinVar ID: CV300234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 10,265,461
GRCh38 5 10,265,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_361:g.20180C>T
NG_012160.1:g.20180C>T
NC_000005.10:g.10265349C>T
NC_000005.9:g.10265461C>T
More... 		06/14/2016 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_001306153
Location:3UTRS;EXON

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

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

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

Gene Symbol:CCT5
Accession:NM_012073
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000357468 CLINVAR
dbSNP (RS) rs377154717 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR