RGD:8565684 Rat Genome Database

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Variant: RGD:8565684 -  Homo sapiens

RGD ID: 8565684
RS ID: rs104894667
ClinVar ID: CV31603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 860,686
GRCh38 19 860,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_46t1:c.125C>A
LRG_46:g.6022C>A
NG_007274.1:g.6022C>A
NC_000019.10:g.860686C>A
More... 		12/12/2011 nonsense|stop-gain pathogenic Complement factor d deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFD
Accession:NM_001928
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSWERLAVLVLLGAAACAAPPRGRILGGREAEAHARPYMA*VQLNGAHLCGGVLVAEQWVLSAAHCLEDAADGKVQVLL
GAHSLSQPEPSKRLYDVLRAVPHPDSQPDTIDHDLLLLQLSEKATLGPAVRPLPWQRVDRDVAPGTLCDVAGWGIVNHAG
RRPDSLQHVLLPVLDRATCNRRTHHDGAITERLMCAESNRRDSCKGDSGGPLVCGGVLEGVVTSGSRVCGNRKKPGIYTR
VASYAAWIDSVLA*

Gene Symbol:CFD
Accession:NM_001317335
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSWERLAVLVLLGAAACGEEAWAWAAPPRGRILGGREAEAHARPYMA*VQLNGAHLCGGVLVAEQWVLSAAHCLEDAAD
GKVQVLLGAHSLSQPEPSKRLYDVLRAVPHPDSQPDTIDHDLLLLQLSEKATLGPAVRPLPWQRVDRDVAPGTLCDVAGW
GIVNHAGRRPDSLQHVLLPVLDRATCNRRTHHDGAITERLMCAESNRRDSCKGDSGGPLVCGGVLEGVVTSGSRVCGNRK
KPGIYTRVASYAAWIDSVLA*
Variant Samples
Additional References at PubMed
PMID:11457876  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018032 CLINVAR
  RCV001729351 CLINVAR
dbSNP (RS) rs104894667 CLINVAR
MedGen C0398764 CLINVAR
  CN517202 CLINVAR
NCBI Gene CFD CLINVAR
OMIM 134350 CLINVAR
  613912 CLINVAR
OMIM Allele 134350.0001 CLINVAR