RGD:11629435 Rat Genome Database

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Variant: RGD:11629435 -  Homo sapiens

RGD ID: 11629435
RS ID: rs782273756
ClinVar ID: CV348617
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 154,065,446
GRCh38 X 154,837,171
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.154837171C>T
NC_000023.10:g.154065446C>T
LRG_555t1:c.*426G>A
NG_011403.2:g.190553G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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_019863
Location:3UTRS;EXON

Gene Symbol:F8
Accession:NM_000132
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000323256 CLINVAR
dbSNP (RS) rs782273756 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F8 CLINVAR
OMIM 300841 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR