RGD:13816841 Rat Genome Database

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Variant: RGD:13816841 -  Homo sapiens

RGD ID: 13816841
RS ID: rs758897077
ClinVar ID: CV570468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC127820637  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,647,308
GRCh38 11 22,625,762
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527t1:c.49G>T
LRG_527:g.5080G>T
NG_007425.1:g.5080G>T
NC_000011.10:g.22625762C>A
More... 		01/09/2020 missense variant uncertain significance Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: V to F (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAFSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000706631 CLINVAR
dbSNP (RS) rs758897077 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR