rs2133796173 Rat Genome Database

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Variant: rs2133796173 -  Homo sapiens

RGD ID: 151887209
RS ID: rs2133796173
ClinVar ID: CV1478249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC130005443  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 22,646,275
GRCh38 11 22,624,729
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022725.4:c.1082A>G
LRG_527:g.6113A>G
NG_007425.1:g.6113A>G
NC_000011.10:g.22624729T>C
More... 		07/07/2023 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: K to R (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRRRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002038139 CLINVAR
dbSNP (RS) rs2133796173 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
  LOC130005443 CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR