RGD:11550353 Rat Genome Database

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Variant: RGD:11550353 -  Homo sapiens

RGD ID: 11550353
RS ID: rs1800345
ClinVar ID: CV255978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,815,217
GRCh38 16 89,748,809
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_495t1:c.3240-42G>A
LRG_495:g.72849G>A
NG_011706.1:g.72849G>A
NC_000016.10:g.89748809C>T
More... 		12/05/2020 intron variant benign AllHighlyPenetrant; Fanconi anemia, group A; Fanconi pancytopenia; Fanconi's anemia; none provided
Disease Annotations     Click to see Annotation Detail View


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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251643 CLINVAR
  RCV001510314 CLINVAR
  RCV001537681 CLINVAR
  RCV001598632 CLINVAR
dbSNP (RS) rs1800345 CLINVAR
MedGen C0015625 CLINVAR
  C3469521 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCA CLINVAR
OMIM 227650 CLINVAR
  607139 CLINVAR
SNOMED CT 30575002 CLINVAR