RGD:40816153 Rat Genome Database

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Variant: RGD:40816153 -  Homo sapiens

RGD ID: 40816153
RS ID: rs782583179
ClinVar ID: CV967240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F8  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 154,194,227
GRCh38 X 154,965,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000132.4:c.1443+18T>G
NC_000023.10:g.154194227A>C
NG_011403.1:g.61772T>G
NC_000023.11:g.154965952A>C
More... 		intron variant benign 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 References at PubMed
PMID:15710596   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001258295 CLINVAR
dbSNP (RS) rs782583179 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F8 CLINVAR
OMIM 300841 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR