RGD:13832227 Rat Genome Database

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Variant: RGD:13832227 -  Homo sapiens

RGD ID: 13832227
RS ID: rs912132298
ClinVar ID: CV582719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC130005444  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,646,476
GRCh38 11 22,624,930
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.22624930C>T
NP_073562.1:p.Trp294Ter
NG_007425.1:g.5912G>A
LRG_527:g.5912G>A
More... 		09/16/2018 nonsense uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGI*VGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000722911 CLINVAR
dbSNP (RS) rs912132298 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FANCF CLINVAR
  LOC130005444 CLINVAR
OMIM 613897 CLINVAR