RGD:28876644 Rat Genome Database

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Variant: RGD:28876644 -  Homo sapiens

RGD ID: 28876644
RS ID: rs1032816312
ClinVar ID: CV902905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F8  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 154,064,510
GRCh38 X 154,836,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033065.1:g.3428A>T
NM_000132.4:c.*1362A>T
NG_011403.1:g.191489A>T
NC_000023.11:g.154836235T>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_000132
Location:3UTRS;EXON

Gene Symbol:F8
Accession:NM_019863
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001166215 CLINVAR
dbSNP (RS) rs1032816312 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F8 CLINVAR
OMIM 300841 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR