rs11545659 Rat Genome Database

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Variant: rs11545659 -  Homo sapiens

RGD ID: 13805390
RS ID: rs11545659
ClinVar ID: CV556934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 241,680,577
GRCh38 1 241,517,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000143.3:c.172G>A
NC_000001.10:g.241680577C>T
NG_012338.1:g.7478G>A
NC_000001.11:g.241517277C>T
More... 		11/01/2023 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FH
Accession:NM_000143
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFSELKVPNDKYYGAQTVRSTMNFK
IGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNR
AIEMLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAV
PLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDA
LVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSN
GHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGS
TLKETAIELGYLTAEQFDEWVKPKDMLGPK*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30761759   PMID:32008151  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001012881 CLINVAR
  RCV001731888 CLINVAR
dbSNP (RS) rs11545659 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene FH CLINVAR
OMIM 136850 CLINVAR
SNOMED CT 699346009 CLINVAR