RGD:21067075 Rat Genome Database

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Variant: RGD:21067075 -  Homo sapiens

RGD ID: 21067075
RS ID: rs1575797993
ClinVar ID: CV790308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  LOC107303338  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 10,109,096
GRCh38 3 10,067,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018115.3:c.2494+95C>A
NM_001319984.2:c.2494+95C>A
NM_001374254.1:c.2494+95C>A
NM_033084.6:c.2494+95C>A
More... 		05/28/2019 intron variant benign Fanconi anemia, group A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCD2
Accession:NM_001374253
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_033084
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374254
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001319984
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000987104 CLINVAR
dbSNP (RS) rs1575797993 CLINVAR
MedGen C3469521 CLINVAR
NCBI Gene 107303338 CLINVAR
  FANCD2 CLINVAR
OMIM 227650 CLINVAR
  613984 CLINVAR