RGD:28891266 Rat Genome Database

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Variant: RGD:28891266 -  Homo sapiens

RGD ID: 28891266
RS ID: rs1948816466
ClinVar ID: CV883785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,919,712
GRCh38 2 219,054,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002181.4:c.*217G>A
NG_016741.1:g.10527G>A
NC_000002.12:g.219054990C>T
NC_000002.11:g.219919712C>T
More... 		01/12/2018 3 prime utr variant uncertain significance Brachydactyly Farabee type
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IHH
Accession:NM_002181
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001139328 CLINVAR
dbSNP (RS) rs1948816466 CLINVAR
MedGen C1862151 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 112500 CLINVAR
  600726 CLINVAR