RGD:150408948 Rat Genome Database

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Variant: RGD:150408948 -  Homo sapiens

RGD ID: 150408948
RS ID: rs2289253
ClinVar ID: CV1175118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F11  F11-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 187,207,535
GRCh38 4 186,286,381
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_583t1:c.1481-34G>T
NM_000128.4:c.1481-34G>T
LRG_583:g.25418G>T
NG_008051.1:g.25418G>T
More... 		07/10/2021 intron variant benign|likely benign Congenital factor XI deficiency; none provided; 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_047449812
Location:INTRON

Gene Symbol:F11
Accession:XM_047449811
Location:INTRON

Gene Symbol:F11
Accession:XM_005262822
Location:INTRON

Gene Symbol:F11
Accession:XM_017007884
Location:INTRON

Gene Symbol:F11
Accession:XM_006714137
Location:INTRON

Gene Symbol:F11
Accession:XM_047449813
Location:INTRON

Gene Symbol:F11
Accession:XM_017007885
Location:INTRON

Gene Symbol:F11
Accession:XM_047449815
Location:INTRON

Gene Symbol:F11
Accession:NM_000128
Location:INTRON

Gene Symbol:F11
Accession:NM_001354804
Location:INTRON

Gene Symbol:F11
Accession:XM_047449816
Location:INTRON

Gene Symbol:F11
Accession:XM_005262821
Location:INTRON

Gene Symbol:F11
Accession:XM_005262823
Location:INTRON

Gene Symbol:F11
Accession:XM_017007886
Location:INTRON

Gene Symbol:F11
Accession:XM_047449814
Location:INTRON

Gene Symbol:F11
Accession:XM_047449817
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 References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001543710 CLINVAR
  RCV001673164 CLINVAR
dbSNP (RS) rs2289253 CLINVAR
MedGen C0015523 CLINVAR
  C3661900 CLINVAR
NCBI Gene F11 CLINVAR
  F11-AS1 CLINVAR
OMIM 264900 CLINVAR
  612416 CLINVAR
SNOMED CT 49762007 CLINVAR