RGD:12835471 Rat Genome Database

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Variant: RGD:12835471 -  Homo sapiens

RGD ID: 12835471
RS ID: rs1057524367
ClinVar ID: CV366287
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 198,352,687
GRCh38 2 197,487,963
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.17312T>C
NC_000002.12:g.197487963A>G
NC_000002.11:g.198352687A>G
NP_002147.2:p.Ser488=
More... 		01/02/2017 synonymous variant likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HSPD1
Accession:NM_199440
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGRTVIIEQSWGSPKVTKDGVTV
AKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGVMLAVDAVIAELKKQSK
PVTTPEEIAQVATISANGDKEIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMKFDRGYISPYFINTSKGQKCEFQ
DAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAVKAPGFGDNRKNQLKDMAIAT
GGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDG
VAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIKRTLKIPAMTIA
KNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGA
MGGMGGGMGGGMF*

Gene Symbol:HSPD1
Accession:NM_002156
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGVDLLADAVAVTMGPKGRTVIIEQSWGSPKVTKDGVTV
AKSIDLKDKYKNIGAKLVQDVANNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGVMLAVDAVIAELKKQSK
PVTTPEEIAQVATISANGDKEIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMKFDRGYISPYFINTSKGQKCEFQ
DAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAEDVDGEALSTLVLNRLKVGLQVVAVKAPGFGDNRKNQLKDMAIAT
GGAVFGEEGLTLNLEDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNERLAKLSDG
VAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPALDSLTPANEDQKIGIEIIKRTLKIPAMTIA
KNAGVEGSLIVEKIMQSSSEVGYDAMAGDFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGA
MGGMGGGMGGGMF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000421722 CLINVAR
  RCV002522670 CLINVAR
dbSNP (RS) rs1057524367 CLINVAR
MedGen C0037772 CLINVAR
  CN169374 CLINVAR
NCBI Gene HSPD1 CLINVAR
OMIM 118190 CLINVAR