RGD:11604455 Rat Genome Database

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Variant: RGD:11604455 -  Homo sapiens

RGD ID: 11604455
RS ID: rs138236643
ClinVar ID: CV306810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,914,376
GRCh38 6 31,946,599
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_136t1:c.291G>A
LRG_136:g.5656G>A
NG_008191.1:g.5656G>A
NC_000006.12:g.31946599G>A
More... 		01/13/2018 synonymous 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: E to E (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSNLSPQLCLMPFILGLLSGGVTTTPWSLARPQGSCSLEGVEIKGGSFRLLQEGQALEYVCPSGFYPYPVQTRTCRSTG
SWSTLKTQDQKTVRKAECRAIHCPRPHDFENGEYWPRSPYYNVSDEISFHCYDGYTLRGSANRTCQVNGRWSGQTAICDN
GAGYCSNPGIPIGTRKVGSQYRLEDSVTYHCSRGLTLRGSQRRTCQEGGSWSGTEPSCQDSFMYDTPQEVAEAFLSSLTE
TIEGVDAEDGHGPGEQQKRKIVLDPSGSMNIYLVLDGSDSIGASNFTGAKKCLVNLIEKVASYGVKPRYGLVTYATYPKI
WVKVSEADSSNADWVTKQLNEINYEDHKLKSGTNTKKALQAVYSMMSWPDDVPPEGWNRTRHVIILMTDGLHNMGGDPIT
VIDEIRDLLYIGKDRKNPREDYLDVYVFGVGPLVNQVNINALASKKDNEQHVFKVKDMENLEDVFYQMIDESQSLSLCGM
VWEHRKGTDYHKQPWQAKISVIRPSKGHESCMGAVVSEYFVLTAAHCFTVDDKEHSIKVSVGGEKRDLEIEVVLFHPNYN
INGKKEAGIPEFYDYDVALIKLKNKLKYGQTIRPICLPCTEGTTRALRLPPTTTCQQQKEELLPAQDIKALFVSEEEKKL
TRKEVYIKNGDKKGSCERDAQYAPGYDKVKDISEVVTPRFLCTGGVSPYADPNTCRGDSGGPLIVHKRSRFIQVGVISWG
VVDVCKNQKRQKQVPAHARDFHINLFQVLPWLKEKLQDEDLGFL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000309787 CLINVAR
  RCV000390739 CLINVAR
  RCV002058592 CLINVAR
  RCV003922572 CLINVAR
dbSNP (RS) rs138236643 CLINVAR
MedGen C0024437 CLINVAR
  C2752038 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFB CLINVAR
OMIM 138470 CLINVAR
  612924 CLINVAR
SNOMED CT 422338006 CLINVAR