RGD:26905600 Rat Genome Database

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Variant: RGD:26905600 -  Homo sapiens

RGD ID: 26905600
RS ID: rs2038478071
ClinVar ID: CV852683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,815,176
GRCh38 16 89,748,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_495t1:c.3240-1G>A
NM_000135.4:c.3240-1G>A
NM_001286167.3:c.3240-1G>A
LRG_495:g.72890G>A
More... 		04/15/2019 splice acceptor variant likely pathogenic Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCA
Accession:NM_000135
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001018112
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001286167
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001351830
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15643609   PMID:16199547   PMID:19367192   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001051366 CLINVAR
dbSNP (RS) rs2038478071 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
SNOMED CT 30575002 CLINVAR