RGD:156245559 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:156245559 -  Homo sapiens

RGD ID: 156245559
ClinVar ID: CV2147847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,078,341
GRCh38 9 35,078,344
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.308-1G>A
LRG_499:g.6673G>A
NG_007312.1:g.6673G>A
NC_000009.12:g.35078344C>T
More...
03/01/2022 splice acceptor variant likely pathogenic Fanconi anemia group G; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:12552564   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003026163 CLINVAR
  RCV003459702 CLINVAR
MedGen C0015625 CLINVAR
  C3469527 CLINVAR
NCBI Gene FANCG CLINVAR
OMIM 227650 CLINVAR
  602956 CLINVAR
  614082 CLINVAR
SNOMED CT 30575002 CLINVAR