RGD:21406154 Rat Genome Database

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Variant: RGD:21406154 -  Homo sapiens

RGD ID: 21406154
RS ID: rs1598843637
ClinVar ID: CV800085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 29,171,912
GRCh38 18 31,591,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.9:g.29171912T>A
NP_000362.1:p.Phe16Tyr
NC_000018.10:g.31591949T>A
NM_000371.4:c.47T>A
More... 		10/01/2018 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTR
Accession:NM_000371
Location:EXON
Amino Acid Prediction: F to Y (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVYVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001002096 CLINVAR
dbSNP (RS) rs1598843637 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 176300 CLINVAR