RGD:127240064 Rat Genome Database

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Variant: RGD:127240064 -  Homo sapiens

RGD ID: 127240064
RS ID: rs1419879344
ClinVar ID: CV1059551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  FANCD2OS  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 10,135,009
GRCh38 3 10,093,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.10093325T>G
NM_173472.2:c.*43+10873A>C
NM_001018115.3:c.3888+2T>G
NM_001319984.2:c.3888+2T>G
More... 		06/28/2020 intron variant pathogenic FANCONI ANEMIA, COMPLEMENTATION GROUP D; Fanconi pancytopenia; FANCONI PANCYTOPENIA, TYPE 4; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCD2OS
Accession:XM_047447400
Location:3UTRS;INTRON

Gene Symbol:FANCD2OS
Accession:NM_173472
Location:3UTRS;INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374254
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374253
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001319984
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_033084
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:INTRON

Gene Symbol:FANCD2OS
Accession:NM_001164839
Location:INTRON

Gene Symbol:FANCD2OS
Accession:XR_007095636
Location:INTRON;NON-CODING

Gene Symbol:FANCD2OS
Accession:XR_007095635
Location:INTRON;NON-CODING

Gene Symbol:FANCD2OS
Accession:XR_007095632
Location:INTRON;NON-CODING

Gene Symbol:FANCD2OS
Accession:XR_007095634
Location:INTRON;NON-CODING

Gene Symbol:FANCD2OS
Accession:XR_007095633
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:23285130   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001383373 CLINVAR
  RCV003469692 CLINVAR
dbSNP (RS) rs1419879344 CLINVAR
MedGen C0015625 CLINVAR
  C3160738 CLINVAR
NCBI Gene FANCD2 CLINVAR
  FANCD2OS CLINVAR
OMIM 227646 CLINVAR
  227650 CLINVAR
  613984 CLINVAR
SNOMED CT 30575002 CLINVAR