RGD:8560747 Rat Genome Database

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Variant: RGD:8560747 -  Homo sapiens

RGD ID: 8560747
RS ID: rs121917861
ClinVar ID: CV23912
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,922,271
GRCh38 2 219,057,549
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.7968C>T
NC_000002.12:g.219057549G>A
NC_000002.11:g.219922271G>A
NP_002172.2:p.Thr154Ile
More... 		09/19/2013 missense|missense variant pathogenic neonatal/infancy 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:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDIITSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*
Variant Samples
Additional References at PubMed
PMID:16871364  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009423 CLINVAR
dbSNP (RS) rs121917861 CLINVAR
MedGen C1862151 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 112500 CLINVAR
  600726 CLINVAR
OMIM Allele 600726.0008 CLINVAR