RGD:38498206 Rat Genome Database

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Variant: RGD:38498206 -  Homo sapiens

RGD ID: 38498206
RS ID: rs760325562
ClinVar ID: CV959662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  LOC107303338  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 10,116,205
GRCh38 3 10,074,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_306t2:c.2716-9T>G
NM_001374253.1:c.2605-9T>G
NM_001018115.3:c.2716-9T>G
NM_001319984.2:c.2716-9T>G
More... 		11/03/2023 intron variant likely benign|uncertain significance Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


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_033084
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374253
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001227628 CLINVAR
dbSNP (RS) rs760325562 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene 107303338 CLINVAR
  FANCD2 CLINVAR
OMIM 227650 CLINVAR
  613984 CLINVAR
SNOMED CT 30575002 CLINVAR