RGD:13612843 Rat Genome Database

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Variant: RGD:13612843 -  Homo sapiens

RGD ID: 13612843
RS ID: rs1457153041
ClinVar ID: CV529120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCI  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 89,806,647
GRCh38 15 89,263,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018193.3:c.504-3C>T
NM_001113378.1:c.504-3C>T
LRG_500t1:c.504-3C>T
NC_000015.10:g.89263416C>T
More...
04/04/2019 intron variant uncertain significance Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCI
Accession:NM_001113378
Location:INTRON

Gene Symbol:FANCI
Accession:NM_018193
Location:INTRON

Gene Symbol:FANCI
Accession:XM_011521756
Location:INTRON

Gene Symbol:FANCI
Accession:XM_011521764
Location:INTRON

Gene Symbol:FANCI
Accession:NM_001376911
Location:INTRON

Gene Symbol:FANCI
Accession:NM_001376910
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432789
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432806
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432815
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432826
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432798
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432819
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432827
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432800
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432795
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432811
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432814
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432828
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432793
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432805
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432821
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432830
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432790
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432808
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432816
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432831
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432802
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432824
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432799
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432796
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432812
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432818
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432833
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432794
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432809
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432822
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432804
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432813
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432825
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432801
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432832
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432792
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432810
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432820
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432791
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432807
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432817
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432829
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432803
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432823
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432797
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000630886 CLINVAR
dbSNP (RS) rs1457153041 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCI CLINVAR
OMIM 227650 CLINVAR
  611360 CLINVAR
SNOMED CT 30575002 CLINVAR