RGD:11614223 Rat Genome Database

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Variant: RGD:11614223 -  Homo sapiens

RGD ID: 11614223
ClinVar ID: CV329717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 70,121,454
GRCh38 17 72,125,313
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_012490.1:g.9294T>C
NC_000017.11:g.72125313T>C
NC_000017.10:g.70121454T>C
NM_000346.4:c.*926T>C
More... 		06/14/2016 3 prime utr variant benign antenatal 1-9 / 1 000 000 Campomelic Dysplasia; CMPD1/SRA1

Variant Details
Variant Transcripts
Gene Symbol:SOX9
Accession:NM_000346
Location:3UTRS;EXON

Variant Samples