RGD:13493604 Rat Genome Database

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Variant: RGD:13493604 -  Homo sapiens

RGD ID: 13493604
RS ID: rs1057517219
ClinVar ID: CV459732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 98,003,027
GRCh38 9 95,240,745
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_497:g.81965A>G
NC_000009.12:g.95240745T>C
NM_001243744.2:c.251-2A>G
LRG_497t1:c.251-2A>G
More... 		10/06/2017 splice acceptor variant pathogenic|likely pathogenic Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:XM_011518365
Location:INTRON

Gene Symbol:FANCC
Accession:NM_000136
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422952
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422956
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518366
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422951
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422950
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422957
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243743
Location:INTRON

Gene Symbol:FANCC
Accession:XM_005251802
Location:INTRON

Gene Symbol:FANCC
Accession:XM_024447451
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422948
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717001
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422949
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243744
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422958
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717002
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17924555   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558309 CLINVAR
dbSNP (RS) rs1057517219 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCC CLINVAR
OMIM 227650 CLINVAR
  613899 CLINVAR
SNOMED CT 30575002 CLINVAR