RGD:8687632 Rat Genome Database

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Variant: RGD:8687632 -  Homo sapiens

RGD ID: 8687632
RS ID: rs587778343
ClinVar ID: CV138091
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC130005443  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,646,316
GRCh38 11 22,624,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527:g.6072G>T
NG_007425.1:g.6072G>T
NC_000011.10:g.22624770C>A
NC_000011.9:g.22646316C>A
More... 		09/19/2013 missense variant not provided AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: W to C (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSICTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:24728327  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121026 CLINVAR
dbSNP (RS) rs587778343 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FANCF CLINVAR
  LOC130005443 CLINVAR
OMIM 613897 CLINVAR