Individual #00115210

ID_report -
Reference PubMed: Ross 2001
Remarks inheritance 1 familial (2doughter's and mother)
Gender -
Consanguinity -
Country United States
Population white
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases LWD
Owner name Ralph Roeth
Database submission license No license selected
Created by Ralph Roeth


Phenotypes

dyschondrosteosis, Leri-Weill (LWD) (LWD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000090690 Leri-Weill dyschondrosteosis (LWD) - - Familial - - - - - Ralph Roeth



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115667 DNA DHPLC;SEQ - - SHOX 1 Ralph Roeth



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic g.601772C>T g.641037C>T - - SHOX_000040 0/100 control alleles PubMed: Ross 2001 - rs137852552 Germline - 1/21 patients +DedI;+BspCNI - - Ralph Roeth SHOX - - - - 5 NM_000451.3:c.583C>T, NM_006883.2:c.583C>T - r.(?) p.(Arg195*) - - - - - - - - - - - - - - - - - - -
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