RGD:8632190 Rat Genome Database

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Variant: RGD:8632190 -  Homo sapiens

RGD ID: 8632190
RS ID: rs79618899
ClinVar ID: CV87396
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX18  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 85,457,739
GRCh38 6 84,748,021
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.84748021C>T
NC_000006.11:g.85457739C>T
NP_001073977.1:p.Asp280Asn
NC_000006.10:g.85514458C>T
More... 		03/21/2023 missense|missense variant likely benign|not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:TBX18
Accession:NM_001080508
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKRRGSPCSMLSLKAHAFSVEALIGAEKQQQLQKKRRKLGAEEAAGAVDDGGCSRGGGAGEKGSSEGDEGAALPPPAG
ATSGPARSGADLERGAAGGCEDGFQQGASPLASPGGSPKGSPARSLARPGTPLPSPQAPRVDLQGAELWKRFHEIGTEMI
ITKAGRRMFPAMRVKISGLDPHQQYYIAMDIVPVDNKRYRYVYHSSKWMVAGNADSPVPPRVYIHPDSPASGETWMRQVI
SFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDCGDNLSPIKPVPSGEGVKAFSFPETVFTTVTAYQNQQITRLKID
RNPFAKGFRDSGRNRMGLEALVESYAFWRPSLRTLTFEDIPGIPKQGNASSSTLLQGTGNGVPATHPHLLSGSSCSSPAF
HLGPNTSQLCSLAPADYSACARSGLTLNRYSTSLAETYNRLTNQAGETFAPPRTPSYVGVSSSTSVNMSMGGTDGDTFSC
PQTSLSMQISGMSPQLQYIMPSPSSNAFATNQTHQGSYNTFRLHSPCALYGYNFSTSPKLAASPEKIVSSQGSFLGSSPS
GTMTDRQMLPPVEGVHLLSSGGQQSFFDSRTLGSLTLSSSQVSAHMV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003732680 CLINVAR
dbSNP (RS) rs79618899 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TBX18 CLINVAR
OMIM 604613 CLINVAR