RGD:28885146 Rat Genome Database

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Variant: RGD:28885146 -  Homo sapiens

RGD ID: 28885146
RS ID: rs1023894625
ClinVar ID: CV863367
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD46  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 207,925,431
GRCh38 1 207,752,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153826.4:c.-127A>G
NM_172350.3:c.-127A>G
NM_172351.3:c.-127A>G
NM_172352.3:c.-127A>G
More... 		01/12/2018 5 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_172350
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172358
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172355
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:XM_047420888
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172359
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172356
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_002389
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172351
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:XM_011509563
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172361
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:XM_047420909
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172353
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_153826
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172352
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:XM_047420894
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:NM_172357
Location:5UTRS;EXON

Gene Symbol:CD46
Accession:XM_047420901
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001098037 CLINVAR
dbSNP (RS) rs1023894625 CLINVAR
MedGen C2752040 CLINVAR
NCBI Gene CD46 CLINVAR
OMIM 120920 CLINVAR
  612922 CLINVAR