RGD:11549901 Rat Genome Database

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Variant: RGD:11549901 -  Homo sapiens

RGD ID: 11549901
RS ID: rs187315404
ClinVar ID: CV253536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,075,453
GRCh38 9 35,075,456
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_499t1:c.1433+9G>A
LRG_499:g.9561G>A
NG_007312.1:g.9561G>A
NC_000009.12:g.35075456C>T
More... 		04/17/2018 intron variant likely benign 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251017 CLINVAR
  RCV000543660 CLINVAR
dbSNP (RS) rs187315404 CLINVAR
MedGen C0015625 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
SNOMED CT 30575002 CLINVAR