RGD:126730081 Rat Genome Database

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Variant: RGD:126730081 -  Homo sapiens

RGD ID: 126730081
RS ID: rs1486214768
ClinVar ID: CV985939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  FANCD2OS  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 10,132,068
GRCh38 3 10,090,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173472.2:c.*44-8853T>A
NM_001374253.1:c.3665A>T
LRG_306:g.68956A>T
NM_001018115.3:c.3776A>T
More... 		06/16/2020 intron variant uncertain significance FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCONI PANCYTOPENIA, TYPE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCD2OS
Accession:NM_173472
Location:3UTRS;INTRON

Gene Symbol:FANCD2OS
Accession:XM_047447400
Location:3UTRS;INTRON

Gene Symbol:FANCD2
Accession:NM_033084
Location:EXON

Gene Symbol:FANCD2
Accession:NM_001319984
Location:EXON

Gene Symbol:FANCD2
Accession:NM_001374254
Location:EXON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:EXON

Gene Symbol:FANCD2
Accession:NM_001374253
Location:EXON

Gene Symbol:FANCD2OS
Accession:NM_001164839
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001294046 CLINVAR
dbSNP (RS) rs1486214768 CLINVAR
MedGen C3160738 CLINVAR
NCBI Gene FANCD2 CLINVAR
  FANCD2OS CLINVAR
OMIM 227646 CLINVAR
  613984 CLINVAR