RGD:156281681 Rat Genome Database

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Variant: RGD:156281681 -  Homo sapiens

RGD ID: 156281681
ClinVar ID: CV2321918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX18  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 85,446,411
GRCh38 6 84,736,693
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.1816A>G
NG_046956.1:g.33038A>G
NC_000006.12:g.84736693T>C
NC_000006.11:g.85446411T>C
More... 		12/15/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX18
Accession:NM_001080508
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 606
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKRRGSPCSMLSLKAHAFSVEALIGAEKQQQLQKKRRKLGAEEAAGAVDDGGCSRGGGAGEKGSSEGDEGAALPPPAG
ATSGPARSGADLERGAAGGCEDGFQQGASPLASPGGSPKGSPARSLARPGTPLPSPQAPRVDLQGAELWKRFHEIGTEMI
ITKAGRRMFPAMRVKISGLDPHQQYYIAMDIVPVDNKRYRYVYHSSKWMVAGNADSPVPPRVYIHPDSPASGETWMRQVI
SFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDCGDDLSPIKPVPSGEGVKAFSFPETVFTTVTAYQNQQITRLKID
RNPFAKGFRDSGRNRMGLEALVESYAFWRPSLRTLTFEDIPGIPKQGNASSSTLLQGTGNGVPATHPHLLSGSSCSSPAF
HLGPNTSQLCSLAPADYSACARSGLTLNRYSTSLAETYNRLTNQAGETFAPPRTPSYVGVSSSTSVNMSMGGTDGDTFSC
PQTSLSMQISGMSPQLQYIMPSPSSNAFATNQTHQGSYNTFRLHSPCALYGYNFSTSPKLAASPEKIVSSQGSFLGSSPS
GTMTDRQMLPPVEGVHLLSSGGQQSFFDSRTLGSLTLSSSQVSAHVV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002921755 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TBX18 CLINVAR
OMIM 604613 CLINVAR