RGD:13785748 Rat Genome Database

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Variant: RGD:13785748 -  Homo sapiens

RGD ID: 13785748
RS ID: rs1554083758
ClinVar ID: CV543489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 187,206,969
GRCh38 4 186,285,815
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_583t1:c.1480+2T>C
LRG_583:g.24852T>C
NG_008051.1:g.24852T>C
NC_000004.12:g.186285815T>C
More... 		01/23/2018 splice donor variant likely pathogenic Congenital factor XI deficiency; Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:F11
Accession:XM_017007886
Location:INTRON

Gene Symbol:F11
Accession:XM_047449811
Location:INTRON

Gene Symbol:F11
Accession:XM_047449816
Location:INTRON

Gene Symbol:F11
Accession:XM_005262821
Location:INTRON

Gene Symbol:F11
Accession:XM_017007885
Location:INTRON

Gene Symbol:F11
Accession:XM_047449813
Location:INTRON

Gene Symbol:F11
Accession:XM_047449815
Location:INTRON

Gene Symbol:F11
Accession:XM_005262823
Location:INTRON

Gene Symbol:F11
Accession:XM_006714137
Location:INTRON

Gene Symbol:F11
Accession:XM_047449817
Location:INTRON

Gene Symbol:F11
Accession:XM_005262822
Location:INTRON

Gene Symbol:F11
Accession:XM_017007884
Location:INTRON

Gene Symbol:F11
Accession:NM_001354804
Location:INTRON

Gene Symbol:F11
Accession:XM_047449814
Location:INTRON

Gene Symbol:F11
Accession:NM_000128
Location:INTRON

Gene Symbol:F11
Accession:XM_047449812
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000672255 CLINVAR
dbSNP (RS) rs1554083758 CLINVAR
MedGen C0015523 CLINVAR
NCBI Gene F11 CLINVAR
OMIM 264900 CLINVAR
  612416 CLINVAR
SNOMED CT 49762007 CLINVAR