RGD:8560750 Rat Genome Database

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Variant: RGD:8560750 -  Homo sapiens

RGD ID: 8560750
RS ID: rs267606872
ClinVar ID: CV23915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,922,343
GRCh38 2 219,057,621
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.7896C>A
NC_000002.12:g.219057621G>T
NC_000002.11:g.219922343G>T
NP_002172.2:p.Thr130Asn
More... 		10/02/2012 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 N (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVNEGWDEDGHHSEESLHYEGRAVDITTSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*
Variant Samples
Additional References at PubMed
PMID:19277064  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009426 CLINVAR
dbSNP (RS) rs267606872 CLINVAR
MedGen C1862151 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 112500 CLINVAR
  600726 CLINVAR
OMIM Allele 600726.0011 CLINVAR