RGD:28905228 Rat Genome Database

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Variant: RGD:28905228 -  Homo sapiens

RGD ID: 28905228
RS ID: rs1043431996
ClinVar ID: CV890580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 187,187,394
GRCh38 4 186,266,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_583t1:c.-57G>A
NM_000128.4:c.-57G>A
NM_001354804.2:c.-57G>A
LRG_583:g.5277G>A
More... 		08/18/2020 5 prime utr variant likely benign|uncertain significance 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_047449811
Location:5UTRS;EXON

Gene Symbol:F11
Accession:NM_000128
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_005262822
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449812
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_005262823
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_006714137
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449813
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449817
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_005262821
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_017007886
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449814
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_017007884
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_017007885
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449816
Location:5UTRS;EXON

Gene Symbol:F11
Accession:NM_001354804
Location:5UTRS;EXON

Gene Symbol:F11
Accession:XM_047449815
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001144809 CLINVAR
  RCV001280254 CLINVAR
dbSNP (RS) rs1043431996 CLINVAR
MedGen C0015523 CLINVAR
NCBI Gene F11 CLINVAR
OMIM 264900 CLINVAR
  612416 CLINVAR
SNOMED CT 49762007 CLINVAR