rs1858626528 Rat Genome Database

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Variant: rs1858626528 -  Homo sapiens

RGD ID: 38479518
RS ID: rs1858626528
ClinVar ID: CV947390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 22,646,813
GRCh38 11 22,625,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_527t1:c.544G>A
NM_022725.4:c.544G>A
LRG_527:g.5575G>A
NG_007425.1:g.5575G>A
More... 		09/10/2019 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: A to T (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAETERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001234348 CLINVAR
dbSNP (RS) rs1858626528 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR