RGD:127261392 Rat Genome Database

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Variant: RGD:127261392 -  Homo sapiens

RGD ID: 127261392
RS ID: rs2123996454
ClinVar ID: CV1087254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F8  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 154,132,365
GRCh38 X 154,904,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_555t1:c.5816-2A>G
NM_000132.4:c.5816-2A>G
LRG_555:g.123634A>G
NG_011403.2:g.123634A>G
More... 		04/28/2021 splice acceptor variant likely 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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001420461 CLINVAR
dbSNP (RS) rs2123996454 CLINVAR
MedGen C0019069 CLINVAR
NCBI Gene F8 CLINVAR
OMIM 300841 CLINVAR
  306700 CLINVAR
SNOMED CT 28293008 CLINVAR