RGD:11579307 Rat Genome Database

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Variant: RGD:11579307 -  Homo sapiens

RGD ID: 11579307
RS ID: rs570165195
ClinVar ID: CV283839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 176,983,980
GRCh38 2 176,119,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_246t1:c.*21C>T
LRG_246:g.12489C>T
NG_008133.2:g.12489C>T
NC_000002.12:g.176119252C>T
More... 		06/14/2016 3 prime utr variant uncertain significance infancy Pes valgus, congenital convex; Rocker-bottom foot deformity
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HOXD10
Accession:NM_002148
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300372 CLINVAR
dbSNP (RS) rs570165195 CLINVAR
MedGen C0240912 CLINVAR
NCBI Gene HOXD10 CLINVAR
OMIM 142984 CLINVAR
  192950 CLINVAR