RGD:8598538 Rat Genome Database

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Variant: RGD:8598538 -  Homo sapiens

RGD ID: 8598538
RS ID: rs137852231
ClinVar ID: CV25616
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 138,623,244
GRCh38 X 139,541,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007994.1:g.15350A>C
NC_000023.11:g.139541085A>C
NC_000023.10:g.138623244A>C
NP_000124.1:p.Gln96Pro
More... 		11/12/2012 intron variant|missense|missense variant pathogenic neonatal/infancy 1 in 25,000 live male births Christmas disease; F9 DEFICIENCY; Factor IX deficiency; HEM B; Hemophilia B; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY
Disease Annotations     Click to see Annotation Detail View
hemophilia B  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDPCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:XM_005262397
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDPCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELVPFPCGRVSVSQTSKLTRAETVFPDVDYVN
STEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHN
IEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKG
RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGI
YTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_001313913
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000011323 CLINVAR
dbSNP (RS) rs137852231 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  306900 CLINVAR
OMIM Allele 300746.0020 CLINVAR
SNOMED CT 41788008 CLINVAR