RGD:11609279 Rat Genome Database

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Variant: RGD:11609279 -  Homo sapiens

RGD ID: 11609279
RS ID: rs1057515706
ClinVar ID: CV320058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 98,079,901
GRCh38 9 95,317,619
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_497t1:c.-172G>T
LRG_497:g.5091G>T
NG_011707.1:g.5091G>T
NC_000009.12:g.95317619C>A
More... 		06/14/2016 2kb upstream variant|5 prime utr variant uncertain significance FACC; Fanconi anemia, group C; FANCONI PANCYTOPENIA, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:NM_001243744
Location:5UTRS;EXON

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

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

Gene Symbol:FANCC
Accession:XM_047422956
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_006717002
Location:5UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422950
Location:INTRON

Gene Symbol:FANCC
Accession:XM_005251802
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422948
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422949
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518365
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422952
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243743
Location:INTRON

Gene Symbol:FANCC
Accession:XM_024447451
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422957
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422951
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422958
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000366383 CLINVAR
dbSNP (RS) rs1057515706 CLINVAR
MedGen C3468041 CLINVAR
NCBI Gene FANCC CLINVAR
OMIM 227645 CLINVAR
  613899 CLINVAR