RGD:13536146 Rat Genome Database

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Variant: RGD:13536146 -  Homo sapiens

RGD ID: 13536146
RS ID: rs1296685064
ClinVar ID: CV503216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 98,011,644
GRCh38 9 95,249,362
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000136.3:c.-71G>A
LRG_497t1:c.-71G>A
LRG_497:g.73348G>A
NG_011707.1:g.73348G>A
More... 		02/22/2017 5 prime utr variant likely benign AllHighlyPenetrant; 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_006717002
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422950
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422949
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422956
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_011518366
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:NM_000136
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422952
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422954
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422953
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422955
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422948
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:NM_001243744
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422951
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422959
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:NM_001243743
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_011518365
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_006717001
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_006717004
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_024447451
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_005251802
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422958
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422957
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000608577 CLINVAR
  RCV001455080 CLINVAR
dbSNP (RS) rs1296685064 CLINVAR
MedGen C0015625 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCC CLINVAR
OMIM 227650 CLINVAR
  613899 CLINVAR
SNOMED CT 30575002 CLINVAR