RGD:8561779 Rat Genome Database

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Variant: RGD:8561779 -  Homo sapiens

RGD ID: 8561779
ClinVar ID: CV25649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 138,643,912
GRCh38 X 139,561,753
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
LRG_556:g.36018G>A
NG_007994.1:g.36018G>A
NC_000023.11:g.139561753G>A
NC_000023.10:g.138643912G>A
More... 		11/12/2012 nonsense 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_001313913
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPD
VDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVV
AGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSG*GR
VFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMK
GKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSG*GRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:XM_005262397
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELVPFPCGRVSVSQTSKLTRAETVFPDVDYVN
STEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHN
IEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSG*GRVFHKG
RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGI
YTKVSRYVNWIKEKTKLT*
Variant Samples
Additional References at PubMed
PMID:2339358  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011356 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  306900 CLINVAR
OMIM Allele 300746.0053 CLINVAR
SNOMED CT 41788008 CLINVAR