RGD:41407776 Rat Genome Database

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Variant: RGD:41407776 -  Homo sapiens

RGD ID: 41407776
RS ID: rs764825466
ClinVar ID: CV980457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,902,135
GRCh38 6 31,934,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178063.3:c.346+393G>A
NM_001282459.2:c.908G>A
NM_001282457.2:c.111+575G>A
NM_000063.6:c.849+59G>A
More... 		04/06/2020 intron variant uncertain significance Age related macular degeneration 14; C2 deficiency; MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C2
Accession:NM_001282459
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLS
KAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGA
VRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKES
LGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRVRNQESACSRGLPVLTISLYLLPLLRTPLTAHLLQEV
FSDYTHAM*

Gene Symbol:C2
Accession:NM_001178063
Location:INTRON

Gene Symbol:C2
Accession:NM_000063
Location:INTRON

Gene Symbol:C2
Accession:NM_001145903
Location:INTRON

Gene Symbol:C2
Accession:NM_001282457
Location:INTRON

Gene Symbol:C2
Accession:NM_001282458
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001281034 CLINVAR
dbSNP (RS) rs764825466 CLINVAR
MedGen C3150275 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 217000 CLINVAR
  613927 CLINVAR
  615489 CLINVAR