RGD:11598264 Rat Genome Database

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Variant: RGD:11598264 -  Homo sapiens

RGD ID: 11598264
RS ID: rs34519984
ClinVar ID: CV286776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 198,364,569
GRCh38 2 197,499,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.198364569A>G
NG_008914.1:g.4849A>G
NG_168373.1:g.226A>G
NC_000002.12:g.197499845A>G
More... 		06/14/2016 5 prime utr variant|intron variant likely benign Autosomal dominant hereditary spastic paraplegia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPD1
Accession:NM_199440
Location:5UTRS;INTRON

Gene Symbol:HSPD1
Accession:NM_002156
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000403275 CLINVAR
dbSNP (RS) rs34519984 CLINVAR
MedGen C0751602 CLINVAR
NCBI Gene HSPD1 CLINVAR
  LOC129935358 CLINVAR
OMIM 118190 CLINVAR
SNOMED CT 737227004 CLINVAR