RGD:151780292 Rat Genome Database

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Variant: RGD:151780292 -  Homo sapiens

RGD ID: 151780292
RS ID: rs2131053141
ClinVar ID: CV1355895
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 35,075,080
GRCh38 9 35,075,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007312.1:g.9934G>C
NC_000009.12:g.35075083C>G
NC_000009.11:g.35075080C>G
NM_004629.2:c.1481-1G>C
More... 		08/31/2021 splice acceptor variant likely pathogenic 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:12552564   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002046098 CLINVAR
dbSNP (RS) rs2131053141 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR