rs886048157 Rat Genome Database

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Variant: rs886048157 -  Homo sapiens

RGD ID: 11644270
RS ID: rs886048157
ClinVar ID: CV313763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC130005443  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,646,351
GRCh38 11 22,624,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527t1:c.1006G>A
LRG_527:g.6037G>A
NG_007425.1:g.6037G>A
NC_000011.10:g.22624805C>T
More... 		01/12/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCF
Accession:NM_022725
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQNGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000259214 CLINVAR
dbSNP (RS) rs886048157 CLINVAR
MedGen C3469526 CLINVAR
NCBI Gene FANCF CLINVAR
  LOC130005443 CLINVAR
OMIM 603467 CLINVAR
  613897 CLINVAR