RGD:28900997 Rat Genome Database

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Variant: RGD:28900997 -  Homo sapiens

RGD ID: 28900997
RS ID: rs776839411
ClinVar ID: CV896217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 31,896,709
GRCh38 6 31,928,932
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.74-4678T>G
LRG_26t1:c.442+15T>G
NM_001282457.2:c.-63-4678T>G
NM_001145903.3:c.46+1134T>G
More...
10/30/2020 genic upstream transcript variant likely benign|uncertain significance C2 deficiency; MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C2
Accession:NM_001282457
Location:5UTRS;INTRON

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_001282458
Location:INTRON

Gene Symbol:C2
Accession:NM_001282459
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001156490 CLINVAR
  RCV001156491 CLINVAR
  RCV001461153 CLINVAR
dbSNP (RS) rs776839411 CLINVAR
MedGen C3150275 CLINVAR
  C3661900 CLINVAR
  C3809653 CLINVAR
  CN517202 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 217000 CLINVAR
  613927 CLINVAR
  615489 CLINVAR