RGD:8687643 Rat Genome Database

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Variant: RGD:8687643 -  Homo sapiens

RGD ID: 8687643
RS ID: rs538555981
ClinVar ID: CV138102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,078,733
GRCh38 9 35,078,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_499:g.6281G>A
NG_007312.1:g.6281G>A
NC_000009.12:g.35078736C>T
NC_000009.11:g.35078733C>T
More...
08/27/2021 missense variant uncertain significance|not provided AllHighlyPenetrant; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCG
Accession:NM_004629
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121037 CLINVAR
  RCV002514637 CLINVAR
dbSNP (RS) rs538555981 CLINVAR
MedGen C0015625 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR