rs8078860 Rat Genome Database

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Variant: rs8078860 -  Homo sapiens

RGD ID: 11630031
RS ID: rs8078860
ClinVar ID: CV347598
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CANT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 76,988,539
GRCh38 17 78,992,457
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016645.1:g.22361C>T
NC_000017.11:g.78992457G>A
NC_000017.10:g.76988539G>A
NM_001159773.2:c.*1093C>T
More... 		01/12/2018 3 prime utr variant benign|uncertain significance DESBUQUOIS DYSPLASIA 1, KIM VARIANT; MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CANT1
Accession:NM_001159772
Location:3UTRS;EXON

Gene Symbol:CANT1
Accession:NM_001159773
Location:3UTRS;EXON

Gene Symbol:CANT1
Accession:NM_138793
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000339451 CLINVAR
  RCV004709781 CLINVAR
dbSNP (RS) rs8078860 CLINVAR
MedGen C3661900 CLINVAR
  C4012146 CLINVAR
NCBI Gene CANT1 CLINVAR
OMIM 251450 CLINVAR
  613165 CLINVAR