RGD:150408543 Rat Genome Database

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Variant: RGD:150408543 -  Homo sapiens

RGD ID: 150408543
RS ID: rs2607327
ClinVar ID: CV1182586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 10,261,542
GRCh38 5 10,261,430
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.931-130C>T
NM_012073.5:c.994-130C>T
LRG_361:g.16261C>T
NG_012160.1:g.16261C>T
More... 		07/14/2021 intron variant benign Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCT5
Accession:NM_001306155
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306153
Location:INTRON

Gene Symbol:CCT5
Accession:NM_012073
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306156
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306154
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001554720 CLINVAR
  RCV001713054 CLINVAR
dbSNP (RS) rs2607327 CLINVAR
MedGen C1850395 CLINVAR
  C3661900 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR