Individual #00095940

ID_report -
Reference PubMed: Charrow and Poznanski 1984
Remarks 2-generation family, 2 affecteds (mother and daughter)
Gender F
Consanguinity -
Country (United States)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel ID 00095939
Panel size 1
Diseases chondrodysplasia, metaphyseal, Murk Jansen type
Owner name Arrate Pereda


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096343 DNA SEQ peripheral blood - PTH1R 1 Arrate Pereda



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
3 Parent #1 +/. g.46940181A>G g.46898691A>G - - PTH1R_000001 constitutively active receptor PubMed: Schipani et al. 1996 - - Germline/De novo (untested) yes - - 0 - Arrate Pereda PTH1R - - - - - 9 NM_000316.2:c.668A>G - - r.(?) p.(His223Arg) - - - - - - - - - - - - - - - - - - -
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