RGD:126745921 Rat Genome Database

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Variant: RGD:126745921 -  Homo sapiens

RGD ID: 126745921
RS ID: rs1441390681
ClinVar ID: CV976056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD46  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 207,934,593
GRCh38 1 207,761,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_155t1:c.476-1G>A
NM_002389.4:c.476-1G>A
NM_153826.4:c.476-1G>A
NM_172350.3:c.476-1G>A
More... 		08/28/2018 splice acceptor variant pathogenic Atypical HUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD46
Accession:NM_172351
Location:INTRON

Gene Symbol:CD46
Accession:NM_172357
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420888
Location:INTRON

Gene Symbol:CD46
Accession:NM_172361
Location:INTRON

Gene Symbol:CD46
Accession:NM_172359
Location:INTRON

Gene Symbol:CD46
Accession:XM_011509563
Location:INTRON

Gene Symbol:CD46
Accession:NM_172353
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420909
Location:INTRON

Gene Symbol:CD46
Accession:NM_153826
Location:INTRON

Gene Symbol:CD46
Accession:NM_172350
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420901
Location:INTRON

Gene Symbol:CD46
Accession:NM_172358
Location:INTRON

Gene Symbol:CD46
Accession:NM_002389
Location:INTRON

Gene Symbol:CD46
Accession:XM_047420894
Location:INTRON

Gene Symbol:CD46
Accession:NM_172352
Location:INTRON

Gene Symbol:CD46
Accession:NM_172355
Location:INTRON

Gene Symbol:CD46
Accession:NM_172356
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001328276 CLINVAR
dbSNP (RS) rs1441390681 CLINVAR
MedGen C2931788 CLINVAR
NCBI Gene CD46 CLINVAR
OMIM 120920 CLINVAR