RGD:11622672 Rat Genome Database

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Variant: RGD:11622672 -  Homo sapiens

RGD ID: 11622672
RS ID: rs747670394
ClinVar ID: CV338980
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 138,644,523
GRCh38 X 139,562,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_556t1:c.*293C>T
LRG_556:g.36629C>T
NG_007994.1:g.36629C>T
NC_000023.11:g.139562364C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Christmas disease; COUMARIN SENSITIVITY, X-LINKED; 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; Warfarin sensitivity, X-linked
Disease Annotations     Click to see Annotation Detail View
hemophilia B  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:F9
Accession:NM_000133
Location:3UTRS;EXON

Gene Symbol:F9
Accession:XM_005262397
Location:3UTRS;EXON

Gene Symbol:F9
Accession:NM_001313913
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000363002 CLINVAR
  RCV002481261 CLINVAR
dbSNP (RS) rs747670394 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  300807 CLINVAR
  301052 CLINVAR
  306900 CLINVAR
SNOMED CT 41788008 CLINVAR