RGD:126767663 Rat Genome Database

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Variant: RGD:126767663 -  Homo sapiens

RGD ID: 126767663
RS ID: rs1928129466
ClinVar ID: CV1035372
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 138,644,120
GRCh38 X 139,561,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001313913.2:c.1162A>C
NM_000133.4:c.1276A>C
LRG_556:g.36226A>C
NG_007994.1:g.36226A>C
More... 		03/26/2020 missense variant uncertain significance Christmas disease; F9 DEFICIENCY; Factor IX deficiency; HEM B; Hemophilia B; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Thrombophilia, X-linked, due to factor 9 defect; Thrombophilia, X-linked, due to factor IX defect
Disease Annotations     Click to see Annotation Detail View
hemophilia B  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:F9
Accession:XM_005262397
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELVPFPCGRVSVSQTSKLTRAETVFPDVDYVN
STEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHN
IEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKG
RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLPGIISWGEECAMKGKYGI
YTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLPGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_001313913
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPD
VDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVV
AGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGR
VFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLPGIISWGEECAMK
GKYGIYTKVSRYVNWIKEKTKLT*
Variant Samples
Additional References at PubMed
PMID:7937052   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001342917 CLINVAR
dbSNP (RS) rs1928129466 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  300807 CLINVAR
  306900 CLINVAR
SNOMED CT 41788008 CLINVAR