RGD:11605652 Rat Genome Database

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Variant: RGD:11605652 -  Homo sapiens

RGD ID: 11605652
RS ID: rs376728587
ClinVar ID: CV319081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 113,798,420
GRCh38 13 113,144,106
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_548t1:c.747+11G>A
LRG_548:g.26308G>A
NG_009258.1:g.26308G>A
NC_000013.11:g.113144106G>A
More... 		06/14/2016 intron variant uncertain significance all ages Congenital factor X deficiency; STUART-PROWER FACTOR DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:F10
Accession:NM_000504
Location:INTRON

Gene Symbol:F10
Accession:NM_001312675
Location:INTRON

Gene Symbol:F10
Accession:NM_001312674
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000322492 CLINVAR
dbSNP (RS) rs376728587 CLINVAR
MedGen C0272327 CLINVAR
NCBI Gene F10 CLINVAR
OMIM 227600 CLINVAR
  613872 CLINVAR
SNOMED CT 37350004 CLINVAR