RGD:156381356 Rat Genome Database

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Variant: RGD:156381356 -  Homo sapiens

RGD ID: 156381356
ClinVar ID: CV2118030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX18  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 85,446,669
GRCh38 6 84,736,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080508.3:c.1558A>G
NG_046956.1:g.32780A>G
NC_000006.12:g.84736951T>C
NC_000006.11:g.85446669T>C
More... 		10/12/2022 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX18
Accession:NM_001080508
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 520
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKRRGSPCSMLSLKAHAFSVEALIGAEKQQQLQKKRRKLGAEEAAGAVDDGGCSRGGGAGEKGSSEGDEGAALPPPAG
ATSGPARSGADLERGAAGGCEDGFQQGASPLASPGGSPKGSPARSLARPGTPLPSPQAPRVDLQGAELWKRFHEIGTEMI
ITKAGRRMFPAMRVKISGLDPHQQYYIAMDIVPVDNKRYRYVYHSSKWMVAGNADSPVPPRVYIHPDSPASGETWMRQVI
SFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDCGDDLSPIKPVPSGEGVKAFSFPETVFTTVTAYQNQQITRLKID
RNPFAKGFRDSGRNRMGLEALVESYAFWRPSLRTLTFEDIPGIPKQGNASSSTLLQGTGNGVPATHPHLLSGSSCSSPAF
HLGPNTSQLCSLAPADYSACARSGLTLNRYSTSLAETYNRLTNQAGETFAPPRTPSYVGVSSSTSVNMSMGGTDGDTFSC
PQTSLSMQISGMSPQLQYIMPSPSSNAFATNQTHQGSYNAFRLHSPCALYGYNFSTSPKLAASPEKIVSSQGSFLGSSPS
GTMTDRQMLPPVEGVHLLSSGGQQSFFDSRTLGSLTLSSSQVSAHMV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002943165 CLINVAR
  RCV002943166 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TBX18 CLINVAR
OMIM 604613 CLINVAR