RGD:152043524 Rat Genome Database

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Variant: RGD:152043524 -  Homo sapiens

RGD ID: 152043524
RS ID: rs1042138271
ClinVar ID: CV1621883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 31,916,180
GRCh38 6 31,948,403
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001710.6:c.927T>C
LRG_136:g.7460T>C
NG_008191.1:g.7460T>C
NC_000006.12:g.31948403T>C
More... 		10/19/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CFB
Accession:NM_001710
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 309
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002108060 CLINVAR
dbSNP (RS) rs1042138271 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CFB CLINVAR
OMIM 138470 CLINVAR