RGD:155683526 Rat Genome Database

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Variant: RGD:155683526 -  Homo sapiens

RGD ID: 155683526
ClinVar ID: CV1792464
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCC  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 98,002,928
GRCh38 9 95,240,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_497t1:c.345+3A>G
NM_000136.3:c.345+3A>G
NM_001243743.2:c.345+3A>G
NM_001243744.2:c.345+3A>G
More... 		01/07/2022 intron variant uncertain significance Cancer predisposition; Fanconi pancytopenia; Fanconi's anemia; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:NM_001243743
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518365
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518366
Location:INTRON

Gene Symbol:FANCC
Accession:XM_005251802
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422948
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422956
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422952
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243744
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422957
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422958
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:FANCC
Accession:NM_000136
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717002
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422951
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717001
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:FANCC
Accession:XM_024447451
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422949
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422950
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV002457202 CLINVAR
  RCV003099494 CLINVAR
MedGen C0015625 CLINVAR
  C0027672 CLINVAR
NCBI Gene FANCC CLINVAR
OMIM 227650 CLINVAR
  613899 CLINVAR
SNOMED CT 30575002 CLINVAR
  699346009 CLINVAR