rs1858616188 Rat Genome Database

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Variant: rs1858616188 -  Homo sapiens

RGD ID: 152174803
RS ID: rs1858616188
ClinVar ID: CV1536021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCF  LOC130005443  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 22,646,373
GRCh38 11 22,624,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022725.4:c.984C>T
LRG_527:g.6015C>T
NG_007425.1:g.6015C>T
NC_000011.10:g.22624827G>A
More... 		07/21/2023 synonymous variant likely benign 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 A (synonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGL
ANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHW
LLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPP
LKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002163278 CLINVAR
dbSNP (RS) rs1858616188 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCF CLINVAR
  LOC130005443 CLINVAR
OMIM 227650 CLINVAR
  613897 CLINVAR
SNOMED CT 30575002 CLINVAR