RGD:11651542 Rat Genome Database

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Variant: RGD:11651542 -  Homo sapiens

RGD ID: 11651542
RS ID: rs886045847
ClinVar ID: CV278630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD46  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 207,968,785
GRCh38 1 207,795,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_155t1:c.*1963C>T
NM_002389.4:c.*1963C>T
LRG_155:g.48384C>T
NG_009296.1:g.48384C>T
More... 		06/14/2016 3 prime utr variant uncertain significance AHUS, SUSCEPTIBILITY TO, 2; Atypical hemolytic-uremic syndrome 2; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD46
Accession:NM_172351
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_153826
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172352
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172358
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172356
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172359
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172353
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172361
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_002389
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172350
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172355
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:NM_172357
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:XM_011509563
Location:3UTRS;EXON

Gene Symbol:CD46
Accession:XM_047420888
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420894
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420909
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420901
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299754 CLINVAR
dbSNP (RS) rs886045847 CLINVAR
MedGen C2752040 CLINVAR
NCBI Gene CD46 CLINVAR
OMIM 120920 CLINVAR
  612922 CLINVAR