RGD:11588963 Rat Genome Database

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Variant: RGD:11588963 -  Homo sapiens

RGD ID: 11588963
RS ID: rs566734345
ClinVar ID: CV293078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  F11-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 187,210,496
GRCh38 4 186,289,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_583t1:c.*728T>C
LRG_583:g.28379T>C
NG_008051.1:g.28379T>C
NC_000004.12:g.186289342T>C
More... 		01/12/2018 3 prime utr variant uncertain significance all ages 1-9 / 1 000 000 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:3UTRS;EXON

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

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

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

Gene Symbol:F11
Accession:XM_005262822
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:F11
Accession:XM_047449812
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 RCV000306985 CLINVAR
dbSNP (RS) rs566734345 CLINVAR
MedGen C0015523 CLINVAR
NCBI Gene F11 CLINVAR
  F11-AS1 CLINVAR
OMIM 264900 CLINVAR
  612416 CLINVAR
SNOMED CT 49762007 CLINVAR