RGD:14746773 Rat Genome Database

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Variant: RGD:14746773 -  Homo sapiens

RGD ID: 14746773
RS ID: rs781818534
ClinVar ID: CV672114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126653398  TSPEAR  TSPEAR-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,929,161
GRCh38 21 44,509,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.1471T>C
NM_144991.3:c.1675T>C
NG_033806.1:g.207301T>C
NC_000021.9:g.44509278A>G
More... 		11/08/2021 missense variant uncertain significance|not provided Deafness, autosomal recessive 98; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_144991
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 559
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQC
DLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTL
VLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPRLCPSRNAPLAVL
SIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQN
LSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEF
SVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEANQTIATSGAYDWE
FFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSDV
INSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDW
EAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:EXON
Amino Acid Prediction: Y to D (nonsynonymous)
Amino Acid Position: 491
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFR
SPALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPR
LCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGNEWVSVLAA
KERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAV
ANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNPATRLFEAN
QTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSY
DVEMQVQNDSDVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVA
VHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR*

Gene Symbol:TSPEAR-AS1
Accession:NR_103707
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000844976 CLINVAR
  RCV001858448 CLINVAR
dbSNP (RS) rs781818534 CLINVAR
MedGen C3553932 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC126653398 CLINVAR
  TSPEAR CLINVAR
  TSPEAR-AS1 CLINVAR
OMIM 612920 CLINVAR
  614861 CLINVAR