RGD:28904574 Rat Genome Database

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Variant: RGD:28904574 -  Homo sapiens

RGD ID: 28904574
RS ID: rs758966628
ClinVar ID: CV895757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,895,494
GRCh38 6 31,927,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_26t1:c.-36G>A
NM_001282458.2:c.-151G>A
NM_000063.6:c.-36G>A
NM_001145903.3:c.-36G>A
More... 		01/12/2018 5 prime utr variant uncertain significance 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_001145903
Location:5UTRS;EXON

Gene Symbol:C2
Accession:NM_001282458
Location:5UTRS;EXON

Gene Symbol:C2
Accession:NM_000063
Location:5UTRS;EXON

Gene Symbol:C2
Accession:NM_001282459
Location:5UTRS;EXON

Gene Symbol:C2
Accession:NM_001282457
Location:5UTRS;INTRON

Gene Symbol:C2
Accession:NM_001178063
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001158055 CLINVAR
  RCV001158056 CLINVAR
dbSNP (RS) rs758966628 CLINVAR
MedGen C3150275 CLINVAR
  C3809653 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 217000 CLINVAR
  613927 CLINVAR
  615489 CLINVAR