RGD:15101094 Rat Genome Database

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Variant: RGD:15101094 -  Homo sapiens

RGD ID: 15101094
RS ID: rs1468015293
ClinVar ID: CV689763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 10,254,247
GRCh38 5 10,254,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306155.2:c.-9-10G>C
NM_001306156.2:c.-9-10G>C
LRG_361:g.8966G>C
LRG_361t1:c.106-10G>C
More... 		12/24/2018 intron variant likely benign 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_001306155
Location:5UTRS;INTRON

Gene Symbol:CCT5
Accession:NM_001306156
Location:5UTRS;INTRON

Gene Symbol:CCT5
Accession:NM_012073
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306154
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306153
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001484591 CLINVAR
dbSNP (RS) rs1468015293 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR