rs146219377 Rat Genome Database

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Variant: rs146219377 -  Homo sapiens

RGD ID: 13492513
RS ID: rs146219377
ClinVar ID: CV461117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 22,646,784
GRCh38 11 22,625,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527t1:c.573C>G
LRG_527:g.5604C>G
NG_007425.1:g.5604C>G
NC_000011.10:g.22625238G>C
More... 		10/31/2022 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Fanconi pancytopenia; Fanconi's anemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSRLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000557500 CLINVAR
  RCV000764967 CLINVAR
  RCV001545711 CLINVAR
  RCV001821485 CLINVAR
  RCV002527669 CLINVAR
dbSNP (RS) rs146219377 CLINVAR
MedGen C0015625 CLINVAR
  C0950123 CLINVAR
  C3469526 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  603467 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR