rs184916517 Rat Genome Database

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Variant: rs184916517 -  Homo sapiens

RGD ID: 11620511
RS ID: rs184916517
ClinVar ID: CV329943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861465  MGP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 15,034,597
GRCh38 12 14,881,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_023331.1:g.9257T>C
NC_000012.12:g.14881663A>G
NC_000012.11:g.15034597A>G
NM_000900.3:c.*476T>C
More...
01/12/2018 3 prime utr variant uncertain significance childhood <1 / 1 000 000 Pulmonic stenosis brachytelephalangism and calcification of cartilages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGP
Accession:NM_001190839
Location:3UTRS;EXON

Gene Symbol:MGP
Accession:NM_000900
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000337252 CLINVAR
dbSNP (RS) rs184916517 CLINVAR
MedGen C1855607 CLINVAR
NCBI Gene LOC126861465 CLINVAR
  MGP CLINVAR
OMIM 154870 CLINVAR
  245150 CLINVAR