RGD:11598519 Rat Genome Database

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Variant: RGD:11598519 -  Homo sapiens

RGD ID: 11598519
RS ID: rs116807022
ClinVar ID: CV285504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXD10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 176,983,961
GRCh38 2 176,119,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_002148.4:c.*2T>C
LRG_246t1:c.*2T>C
LRG_246:g.12470T>C
NG_008133.2:g.12470T>C
More... 		10/01/2023 3 prime utr variant benign|likely benign infancy none provided; 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 RCV000406808 CLINVAR
  RCV001812871 CLINVAR
dbSNP (RS) rs116807022 CLINVAR
MedGen C0240912 CLINVAR
  C3661900 CLINVAR
NCBI Gene HOXD10 CLINVAR
OMIM 142984 CLINVAR
  192950 CLINVAR