RGD:28897720 Rat Genome Database

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Variant: RGD:28897720 -  Homo sapiens

RGD ID: 28897720
RS ID: rs200645483
ClinVar ID: CV895785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,915,745
GRCh38 6 31,947,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_136t1:c.784G>A
NM_001710.6:c.784G>A
LRG_136:g.7025G>A
NG_008191.1:g.7025G>A
More... 		01/13/2018 missense variant likely benign|uncertain significance AHUS, SUSCEPTIBILITY TO, 4; Atypical hemolytic-uremic syndrome 4; Degenerative disorder of macula; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CFB
Accession:NM_001710
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSNLSPQLCLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTG
SWSTLKTQDQKTVRKAECRAIHCPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN
GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSCQDSFMYDTPQEVAEAFLSSLTE
TIEGVDAEDGHGPGEQQKRKIILDPSGSMNIYLVLDGSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKI
WVKVSEADSSNADWVTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLHNMGGDPIT
VIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQHVFKVKDMENLEDVFYQMIDESQSLSLCGM
VWEHRKGTDYHKQPWQAKISVIRPSKGHESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYN
INGKKEAGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLPAQDIKALFVSEEEKKL
TRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLCTGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWG
VVDVCKNQKRQKQVPAHARDFHINLFQVLPWLKEKLQDEDLGFL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155148 CLINVAR
  RCV001155149 CLINVAR
  RCV002070901 CLINVAR
dbSNP (RS) rs200645483 CLINVAR
MedGen C0024437 CLINVAR
  C2752038 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFB CLINVAR
OMIM 138470 CLINVAR
  612924 CLINVAR
SNOMED CT 422338006 CLINVAR