RGD:8560749 Rat Genome Database

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Variant: RGD:8560749 -  Homo sapiens

RGD ID: 8560749
RS ID: rs267606873
ClinVar ID: CV23914
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,922,349
GRCh38 2 219,057,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_016741.1:g.7890G>A
NC_000002.12:g.219057627C>T
NC_000002.11:g.219922349C>T
NP_002172.2:p.Arg128Gln
More... 		10/13/2022 missense|missense variant pathogenic|likely pathogenic|uncertain significance neonatal/infancy Brachydactyly Farabee type; none provided
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:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLQVTEGWDEDGHHSEESLHYEGRAVDITTSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*
Variant Samples
Additional References at PubMed
PMID:19277064   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009425 CLINVAR
  RCV001851762 CLINVAR
dbSNP (RS) rs267606873 CLINVAR
MedGen C1862151 CLINVAR
  C3661900 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 112500 CLINVAR
  600726 CLINVAR
OMIM Allele 600726.0010 CLINVAR