RGD:21068025 Rat Genome Database

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Variant: RGD:21068025 -  Homo sapiens

RGD ID: 21068025
RS ID: rs780845880
ClinVar ID: CV795166
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,922,152
GRCh38 2 219,057,430
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.577+3G>A
NG_016741.1:g.8087G>A
NC_000002.12:g.219057430C>T
NC_000002.11:g.219922152C>T
More...
03/24/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IHH
Accession:NM_002181
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000997671 CLINVAR
dbSNP (RS) rs780845880 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 600726 CLINVAR