RGD:41405207 Rat Genome Database

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Variant: RGD:41405207 -  Homo sapiens

RGD ID: 41405207
RS ID: rs1280131174
ClinVar ID: CV982315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 154,156,845
GRCh38 X 154,928,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.154928570C>T
NC_000023.10:g.154156845C>T
LRG_555t1:c.5219+1G>A
NM_000132.4:c.5219+1G>A
More... 		08/05/2020 splice donor 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:F8
Accession:NM_000132
Location:INTRON

Gene Symbol:F8
Accession:NM_019863
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001285631 CLINVAR
dbSNP (RS) rs1280131174 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F8 CLINVAR
OMIM 300841 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR