RGD:150554977 Rat Genome Database

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Variant: RGD:150554977 -  Homo sapiens

RGD ID: 150554977
RS ID: rs753750358
ClinVar ID: CV1309967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCI  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 89,828,316
GRCh38 15 89,285,085
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001376910.1:c.1420-11C>T
NM_001113378.2:c.1699-11C>T
NM_001376911.1:c.1699-11C>T
NM_018193.3:c.1699-11C>T
More... 		12/02/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Fanconi pancytopenia; Fanconi's anemia; none provided
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCI
Accession:XM_047432795
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432791
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432797
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432789
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432828
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432820
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432802
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432796
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432829
Location:INTRON

Gene Symbol:FANCI
Accession:XM_011521756
Location:INTRON

Gene Symbol:FANCI
Accession:XM_011521764
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432806
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432808
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432833
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432811
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432819
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432807
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432817
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432823
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432826
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432830
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432799
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432813
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432832
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432798
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432814
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432831
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432812
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432825
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432800
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432824
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432803
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432821
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432809
Location:INTRON

Gene Symbol:FANCI
Accession:NM_018193
Location:INTRON

Gene Symbol:FANCI
Accession:NM_001376910
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432815
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432827
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432818
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432792
Location:INTRON

Gene Symbol:FANCI
Accession:NM_001113378
Location:INTRON

Gene Symbol:FANCI
Accession:NM_001376911
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432805
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432816
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432801
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432810
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432793
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432790
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432794
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432822
Location:INTRON

Gene Symbol:FANCI
Accession:XM_047432804
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002074054 CLINVAR
  RCV003237704 CLINVAR
dbSNP (RS) rs753750358 CLINVAR
MedGen C0015625 CLINVAR
  C3661900 CLINVAR
NCBI Gene FANCI CLINVAR
OMIM 227650 CLINVAR
  611360 CLINVAR
SNOMED CT 30575002 CLINVAR