RGD:28901306 Rat Genome Database

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Variant: RGD:28901306 -  Homo sapiens

RGD ID: 28901306
RS ID: rs370943521
ClinVar ID: CV896012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 10,258,210
GRCh38 5 10,258,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_361t1:c.531-13G>T
NM_001306153.1:c.468-13G>T
NM_012073.5:c.531-13G>T
LRG_361:g.12929G>T
More...
01/13/2018 intron 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:INTRON

Gene Symbol:CCT5
Accession:NM_001306154
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306153
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306156
Location:INTRON

Gene Symbol:CCT5
Accession:NM_001306155
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001156619 CLINVAR
dbSNP (RS) rs370943521 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR