RGD:28895589 Rat Genome Database

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Variant: RGD:28895589 -  Homo sapiens

RGD ID: 28895589
RS ID: rs2607286
ClinVar ID: CV892611
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 10,265,462
GRCh38 5 10,265,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012160.1:g.20181G>A
NC_000005.10:g.10265350G>A
NM_012073.5:c.*567G>A
NM_001306155.2:c.*567G>A
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_001306154
Location:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001154334 CLINVAR
dbSNP (RS) rs2607286 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR