RGD:11665889 Rat Genome Database

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Variant: RGD:11665889 -  Homo sapiens

RGD ID: 11665889
RS ID: rs117905900
ClinVar ID: CV299817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 31,915,819
GRCh38 6 31,948,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001710.5:c.858C>T
LRG_136t1:c.858C>T
LRG_136:g.7099C>T
NG_008191.1:g.7099C>T
More... 		11/24/2020 synonymous variant benign|likely benign AHUS, SUSCEPTIBILITY TO, 4; AllHighlyPenetrant; Atypical hemolytic-uremic syndrome 4; Atypical HUS; C2 deficiency; 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: F to F (synonymous)
Amino Acid Position: 286
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 RCV000300468 CLINVAR
  RCV000331208 CLINVAR
  RCV000374284 CLINVAR
  RCV001155150 CLINVAR
  RCV001517537 CLINVAR
  RCV001821083 CLINVAR
dbSNP (RS) rs117905900 CLINVAR
MedGen C0024437 CLINVAR
  C2752038 CLINVAR
  C2931788 CLINVAR
  C3150275 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene C2 CLINVAR
  CFB CLINVAR
OMIM 138470 CLINVAR
  217000 CLINVAR
  612924 CLINVAR
  613927 CLINVAR
SNOMED CT 422338006 CLINVAR