RGD:127311560 Rat Genome Database

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Variant: RGD:127311560 -  Homo sapiens

RGD ID: 127311560
RS ID: rs1363368892
ClinVar ID: CV1119696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 35,074,223
GRCh38 9 35,074,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004629.2:c.1761-10T>C
LRG_499:g.10791T>C
LRG_657:g.3517T>C
NG_007312.1:g.10791T>C
More... 		10/14/2020 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001456935 CLINVAR
dbSNP (RS) rs1363368892 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR