RGD:13821769 Rat Genome Database

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Variant: RGD:13821769 -  Homo sapiens

RGD ID: 13821769
RS ID: rs1434866164
ClinVar ID: CV573610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 138,619,520
GRCh38 X 139,537,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000133.3:c.253-1G>C
LRG_556t1:c.253-1G>C
LRG_556:g.11626G>C
NG_007994.1:g.11626G>C
More... 		04/25/2019 splice acceptor variant 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:INTRON

Gene Symbol:F9
Accession:NM_000133
Location:INTRON

Gene Symbol:F9
Accession:NM_001313913
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:8434583   PMID:8680410   PMID:16199547   PMID:20301668   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000696357 CLINVAR
dbSNP (RS) rs1434866164 CLINVAR
MedGen C0008533 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  300807 CLINVAR
  306900 CLINVAR
SNOMED CT 41788008 CLINVAR