RGD:11655558 Rat Genome Database

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Variant: RGD:11655558 -  Homo sapiens

RGD ID: 11655558
RS ID: rs886055389
ClinVar ID: CV286770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 198,360,099
GRCh38 2 197,495,375
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008915.1:g.9900T>C
NC_000002.12:g.197495375A>G
NC_000002.11:g.198360099A>G
NP_002147.2:p.Gly143=
More... 		06/14/2016 synonymous variant uncertain significance SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPD1
Accession:NM_199440
Location:EXON

Gene Symbol:HSPD1
Accession:NM_002156
Location:EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000326552 CLINVAR
dbSNP (RS) rs886055389 CLINVAR
MedGen C1854467 CLINVAR
NCBI Gene HSPD1 CLINVAR
OMIM 118190 CLINVAR
  605280 CLINVAR