RGD:401745799 Rat Genome Database

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Variant: RGD:401745799 -  Homo sapiens

RGD ID: 401745799
ClinVar ID: CV2695443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 22,646,605
GRCh38 11 22,625,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.22625059A>C
NC_000011.9:g.22646605A>C
NM_022725.3:c.752T>G
LRG_527p1:p.Phe251Cys
More... 		03/29/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 251
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAACCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003275577 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 613897 CLINVAR