RGD:28886317 Rat Genome Database

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Variant: RGD:28886317 -  Homo sapiens

RGD ID: 28886317
RS ID: rs938214207
ClinVar ID: CV890596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  F11-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 187,210,377
GRCh38 4 186,289,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_583:g.28260C>A
LRG_583t1:c.*609C>A
NM_000128.4:c.*609C>A
NG_008051.1:g.28260C>A
More... 		01/13/2018 3 prime utr variant 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_005262822
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_005262823
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449812
Location:3UTRS;EXON

Gene Symbol:F11
Accession:NM_000128
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_006714137
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449816
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449811
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449813
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449817
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449814
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_005262821
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_047449815
Location:3UTRS;EXON

Gene Symbol:F11
Accession:XM_017007884
Location:INTRON

Gene Symbol:F11
Accession:XM_017007886
Location:INTRON

Gene Symbol:F11
Accession:NM_001354804
Location:INTRON

Gene Symbol:F11
Accession:XM_017007885
Location:INTRON

Gene Symbol:F11-AS1
Accession:NR_033900
Location:INTRON;NON-CODING

Gene Symbol:F11-AS1
Accession:NR_033901
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001151123 CLINVAR
dbSNP (RS) rs938214207 CLINVAR
MedGen C0015523 CLINVAR
NCBI Gene F11 CLINVAR
  F11-AS1 CLINVAR
OMIM 264900 CLINVAR
  612416 CLINVAR
SNOMED CT 49762007 CLINVAR