RGD:15106248 Rat Genome Database

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Variant: RGD:15106248 -  Homo sapiens

RGD ID: 15106248
RS ID: rs146352365
ClinVar ID: CV692983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC127820637  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,647,099
GRCh38 11 22,625,553
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_073562.1:p.Leu86=
NM_022725.4:c.258C>T
NG_007425.1:g.5289C>T
NC_000011.10:g.22625553G>A
More... 		12/23/2021 synonymous variant likely benign 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: L to L (synonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000871258 CLINVAR
dbSNP (RS) rs146352365 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR