RGD:11560022 Rat Genome Database

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Variant: RGD:11560022 -  Homo sapiens

RGD ID: 11560022
RS ID: rs142365855
ClinVar ID: CV259748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  LOC107303338  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 10,114,666
GRCh38 3 10,072,982
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_306:g.51554G>A
NG_007311.1:g.51554G>A
NC_000003.12:g.10072982G>A
NC_000003.11:g.10114666G>A
More... 		07/31/2019 splice donor variant pathogenic|likely pathogenic|uncertain significance FANCONI ANEMIA, COMPLEMENTATION GROUP D; Fanconi pancytopenia; FANCONI PANCYTOPENIA, TYPE 4; Fanconi's anemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCD2
Accession:NM_001374254
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001319984
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374253
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_033084
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17436244   PMID:25741868   PMID:26633542   PMID:28492532   PMID:34327028  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000255506 CLINVAR
  RCV001332747 CLINVAR
  RCV001855003 CLINVAR
dbSNP (RS) rs142365855 CLINVAR
MedGen C0015625 CLINVAR
  C3160738 CLINVAR
  C3661900 CLINVAR
NCBI Gene 107303338 CLINVAR
  FANCD2 CLINVAR
OMIM 227646 CLINVAR
  227650 CLINVAR
  613984 CLINVAR
SNOMED CT 30575002 CLINVAR