RGD:21071222 Rat Genome Database

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Variant: RGD:21071222 -  Homo sapiens

RGD ID: 21071222
RS ID: rs62636640
ClinVar ID: CV790305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBC1D23  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 99,998,531
GRCh38 3 100,279,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199198.2:c.92G>C
NM_001199198.3:c.92G>C
NM_018309.5:c.92G>C
NC_000003.12:g.100279687G>C
More... 		05/28/2019 missense variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBC1D23
Accession:NM_001199198
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGEDVPPLPTSSGDGWEKDLEEALEAGGSDLETLRNIIQGRPLPADLRAKVWKIALNVAGKGDSLASWDGILDLPEQN
TIHKDCLQFIDQLSVPEEKAAELLLDIESVITFYCKSRNIKYSTSLSWIHLLKPLVHLQLPRSDLYNCFYAIMNKYIPRD
CSQKGRPFHLFRLLIQYHEPELCSYLDTKKITPDSYALNWLGSLFACYCSTEVTQAIWDGYLQQADPFFIYFLMLIILVN
AKEVILTQESDSKEEVIKFLENTPSSLNIEDIEDLFSLAQYYCSKTPASFRKDNHHLFGSTLLGIKDDDADLSQALCLAI
SVSEILQANQLQGEGVRFFVVDCRPAEQYNAGHLSTAFHLDSDLMLQNPSEFAQSVKSLLEAQKQSIESGSIAGGEHLCF
MGSGREEEDMYMNMVLAHFLQKNKEYVSIASGGFMALQQHLADINVDGPENGYGHWIASTSGSRSSINSVDGESPNGSSD
RGMKSLVNKMTVALKTKSVNVREKVISFIENTSTPVDRMSFNLPWPDRSCTERHVSSSDRVGKPYRGVKPVFSIGDEEEY
DTDEIDSSSMSDDDRKEVVNIQTWINKPDVKHHFPCKEVKESGHMFPSHLLVTATHMYCLREIVSRKGLAYIQSRQALNS
VVKITSKKKHPELITFKYGNSSASGIEILAIERYLIPNAGDATKAIKQQIMKVLDALES*

Gene Symbol:TBC1D23
Accession:NM_018309
Location:EXON
Amino Acid Prediction: C to S (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEGEDVPPLPTSSGDGWEKDLEEALEAGGSDLETLRNIIQGRPLPADLRAKVWKIALNVAGKGDSLASWDGILDLPEQN
TIHKDCLQFIDQLSVPEEKAAELLLDIESVITFYCKSRNIKYSTSLSWIHLLKPLVHLQLPRSDLYNCFYAIMNKYIPRD
CSQKGRPFHLFRLLIQYHEPELCSYLDTKKITPDSYALNWLGSLFACYCSTEVTQAIWDGYLQQADPFFIYFLMLIILVN
AKEVILTQESDSKEEVIKFLENTPSSLNIEDIEDLFSLAQYYCSKTPASFRKDNHHLFGSTLLGIKDDDADLSQALCLAI
SVSEILQANQLQGEGVRFFVVDCRPAEQYNAGHLSTAFHLDSDLMLQNPSEFAQSVKSLLEAQKQSIESGSIAGGEHLCF
MGSGREEEDMYMNMVLAHFLQKNKEYVSIASGGFMALQQHLADINVDGPENGYGHWIASTSGSRSSINSVDGESPNGSSD
RGMKSLVNKMTVALKTKSVNVREKVISFIENTSTPVDRHVSSSDRVGKPYRGVKPVFSIGDEEEYDTDEIDSSSMSDDDR
KEVVNIQTWINKPDVKHHFPCKEVKESGHMFPSHLLVTATHMYCLREIVSRKGLAYIQSRQALNSVVKITSKKKHPELIT
FKYGNSSASGIEILAIERYLIPNAGDATKAIKQQIMKVLDALES*

Gene Symbol:TBC1D23
Accession:XM_047448562
Location:INTRON

Gene Symbol:TBC1D23
Accession:XM_017006841
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000987300 CLINVAR
  RCV001572910 CLINVAR
  RCV001727834 CLINVAR
dbSNP (RS) rs62636640 CLINVAR
MedGen C3661900 CLINVAR
  C4540164 CLINVAR
  CN169374 CLINVAR
NCBI Gene TBC1D23 CLINVAR
OMIM 617687 CLINVAR
  617695 CLINVAR