RGD:151745625 Rat Genome Database

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Variant: RGD:151745625 -  Homo sapiens

RGD ID: 151745625
RS ID: rs2133798660
ClinVar ID: CV1501874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC127820637  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 22,647,253
GRCh38 11 22,625,707
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.104T>G
LRG_527:g.5135T>G
NG_007425.1:g.5135T>G
NC_000011.10:g.22625707A>C
More... 		09/24/2021 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: L to W (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRAWQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002042694 CLINVAR
  RCV002507778 CLINVAR
dbSNP (RS) rs2133798660 CLINVAR
MedGen C0015625 CLINVAR
  C3469526 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  603467 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR