RGD:13540265 Rat Genome Database

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Variant: RGD:13540265 -  Homo sapiens

RGD ID: 13540265
RS ID: rs1555631392
ClinVar ID: CV507352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 29,175,098
GRCh38 18 31,595,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_416t1:c.216T>G
LRG_416:g.8369T>G
NG_009490.1:g.8369T>G
NC_000018.10:g.31595135T>G
More... 		05/11/2017 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTR
Accession:NM_000371
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000614457 CLINVAR
dbSNP (RS) rs1555631392 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 176300 CLINVAR