rs587778344 Rat Genome Database

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Variant: rs587778344 -  Homo sapiens

RGD ID: 8687633
RS ID: rs587778344
ClinVar ID: CV138092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC127820637  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,647,178
GRCh38 11 22,625,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527:g.5210G>A
NG_007425.1:g.5210G>A
NC_000011.10:g.22625632C>T
NC_000011.9:g.22647178C>T
More... 		09/19/2013 missense variant not provided AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALEQRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:24728327  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121027 CLINVAR
dbSNP (RS) rs587778344 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 613897 CLINVAR