RGD:21405919 Rat Genome Database

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Variant: RGD:21405919 -  Homo sapiens

RGD ID: 21405919
RS ID: rs1266788575
ClinVar ID: CV800220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 138,619,337
GRCh38 X 139,537,178
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.252+5G>A
NG_007994.1:g.11443G>A
NM_000133.3:c.252+5G>A
NC_000023.10:g.138619337G>A
More... 		06/01/2019 intron variant pathogenic AllHighlyPenetrant; Christmas disease; F9 DEFICIENCY; Factor IX deficiency; HEM B; Hemophilia B; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY
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_001313913
Location:INTRON

Gene Symbol:F9
Accession:NM_000133
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1968152   PMID:8055323   PMID:15921378   PMID:16270648   PMID:27213901  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001001423 CLINVAR
  RCV001265096 CLINVAR
dbSNP (RS) rs1266788575 CLINVAR
MedGen C0008533 CLINVAR
  CN169374 CLINVAR
NCBI Gene F9 CLINVAR
OMIM 300746 CLINVAR
  306900 CLINVAR
SNOMED CT 41788008 CLINVAR