RGD:155800371 Rat Genome Database

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Variant: RGD:155800371 -  Homo sapiens

RGD ID: 155800371
ClinVar ID: CV1863404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,945,541
GRCh38 21 44,525,658
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.8:g.45945541C>T
NM_144991.2:c.1331G>A
NC_000021.9:g.44525658C>T
NM_144991.3:c.1331G>A
More... 		12/20/2022 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFR
SPALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPR
LCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAA
KERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAV
ANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHQEGDNHNIDSVIYKWNPATRLFEAN
QTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSY
DVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVA
VHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 444
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQC
DLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTL
VLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQN
LSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEF
SVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHQEGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYV
INSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDW
EAFSTTAGAYLIYSSAKEPLSRVLRLRTR*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:34042254  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002470675 CLINVAR
  RCV002571499 CLINVAR
MedGen C3661900 CLINVAR
  C5774277 CLINVAR
NCBI Gene TSPEAR CLINVAR
OMIM 612920 CLINVAR
  620173 CLINVAR
OMIM Allele 612920.0012 CLINVAR