rs762356967 Rat Genome Database

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Variant: rs762356967 -  Homo sapiens

RGD ID: 150543939
RS ID: rs762356967
ClinVar ID: CV1309886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,646,556
GRCh38 11 22,625,010
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.22625010G>T
NC_000011.9:g.22646556G>T
NM_022725.3:c.801C>A
NP_073562.1:p.His267Gln
More... 		09/16/2022 missense variant uncertain significance 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: H to Q (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRQPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001861121 CLINVAR
  RCV003237628 CLINVAR
  RCV004571088 CLINVAR
dbSNP (RS) rs762356967 CLINVAR
MedGen C0015625 CLINVAR
  C3469526 CLINVAR
  C3661900 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  603467 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR