RGD:14975724 Rat Genome Database

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Variant: RGD:14975724 -  Homo sapiens

RGD ID: 14975724
RS ID: rs1603265481
ClinVar ID: CV615665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 138,630,537
GRCh38 X 139,548,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000124.1:p.Ile136Thr
NM_000133.4:c.407T>C
NM_001313913.2:c.293T>C
LRG_556p1:p.Ile136Thr
More... 		02/01/2019 missense variant pathogenic Factor 8 deficiency, congenital; Factor VIII deficiency, congenital; HEM A; Hemophilia A; Hemophilia A, congenital; Hemophilia, classic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:F9
Accession:NM_001313913
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDVTCNTKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPD
VDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVV
AGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGR
VFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMK
GKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:NM_000133
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFEN
TERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNTKNGRCEQFCKNSADNKVVCSCTEG
YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPW
QVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLE
LDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFH
EGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT*

Gene Symbol:F9
Accession:XM_005262397
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000851938 CLINVAR
dbSNP (RS) rs1603265481 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR