RGD:8598535 Rat Genome Database

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Variant: RGD:8598535 -  Homo sapiens

RGD ID: 8598535
RS ID: rs137852228
ClinVar ID: CV25612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 138,619,304
GRCh38 X 139,537,145
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.11410G>A
NC_000023.11:g.139537145G>A
NC_000023.10:g.138619304G>A
NP_000124.1:p.Arg75Gln
More... 		11/01/2023 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1 in 25,000 live male births Christmas disease; COUMARIN SENSITIVITY, X-LINKED; F9 DEFICIENCY; Factor 8 deficiency, congenital; Factor IX deficiency; Factor VIII deficiency, congenital; HEM A; HEM B; Hemophilia A; Hemophilia A, congenital; Hemophilia B; Hemophilia, classic; none provided; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Thrombophilia, X-linked, due to factor 9 defect; Thrombophilia, X-linked, due to factor IX defect; Warfarin sensitivity, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAQEVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_001313913
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAQEVFEN
TERTTEFWKQYVDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPD
VDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVV
AGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGR
VFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMK
GKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:XM_005262397
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAQEVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELVPFPCGRVSVSQTSKLTRAETVFPDVDYVN
STEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHN
IEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKG
RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGI
YTKVSRYVNWIKEKTKLT*
Variant Samples
Additional References at PubMed
PMID:2066105   PMID:2773937   PMID:19699296   PMID:22639855   PMID:24375831   PMID:25741868   PMID:28492532   PMID:28722788   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011319 CLINVAR
  RCV000757260 CLINVAR
  RCV000852079 CLINVAR
  RCV001851790 CLINVAR
  RCV002490353 CLINVAR
dbSNP (RS) rs137852228 CLINVAR
MedGen C0008533 CLINVAR
  C0019069 CLINVAR
  C3661900 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  300807 CLINVAR
  301052 CLINVAR
  306700 CLINVAR
  306900 CLINVAR
OMIM Allele 300746.0016 CLINVAR
SNOMED CT 28293008 CLINVAR
  41788008 CLINVAR