RGD:13497460 Rat Genome Database

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Variant: RGD:13497460 -  Homo sapiens

RGD ID: 13497460
RS ID: rs1556437035
ClinVar ID: CV471322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 138,623,237
GRCh38 X 139,541,078
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.277+3692G>A
NM_000133.4:c.280G>A
LRG_556p1:p.Gly94Arg
NP_000124.1:p.Gly94Arg
More... 		08/11/2017 intron variant likely pathogenic 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: G to R (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDRDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELVPFPCGRVSVSQTSKLTRAETVFPDVDYVN
STEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHN
IEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKG
RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGI
YTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDRDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_001313913
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1796396   PMID:10595634   PMID:19699296   PMID:20305539   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001378470 CLINVAR
dbSNP (RS) rs1556437035 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  300807 CLINVAR
  306900 CLINVAR
SNOMED CT 41788008 CLINVAR