rs756213451 Rat Genome Database

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Variant: rs756213451 -  Homo sapiens

RGD ID: 126736487
RS ID: rs756213451
ClinVar ID: CV994441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,646,740
GRCh38 11 22,625,194
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022725.4:c.617C>T
NG_007425.1:g.5648C>T
NC_000011.10:g.22625194G>A
NC_000011.9:g.22646740G>A
More... 		05/06/2022 missense variant uncertain significance Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIVVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001304748 CLINVAR
  RCV002486183 CLINVAR
  RCV002543109 CLINVAR
dbSNP (RS) rs756213451 CLINVAR
MedGen C0015625 CLINVAR
  C0950123 CLINVAR
  C3469526 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  603467 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR