RGD:39457547 Rat Genome Database

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Variant: RGD:39457547 -  Homo sapiens

RGD ID: 39457547
RS ID: rs2041094594
ClinVar ID: CV962460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,882,283
GRCh38 16 89,815,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018112.3:c.189+2T>A
NG_011706.1:g.5783T>A
NC_000016.10:g.89815875A>T
NC_000016.9:g.89882283A>T
More... 		10/14/2021 splice donor variant likely pathogenic|uncertain significance Fanconi anemia, group A; Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCA
Accession:NM_001351830
Location:INTRON

Gene Symbol:FANCA
Accession:NM_000135
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001286167
Location:INTRON

Gene Symbol:FANCA
Accession:NM_001018112
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001256542 CLINVAR
  RCV001879797 CLINVAR
dbSNP (RS) rs2041094594 CLINVAR
MedGen C0015625 CLINVAR
  C3469521 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
SNOMED CT 30575002 CLINVAR