Screening #0000100751

Individual ID 00100347
Template DNA
Technique SEQ
Tissue peripheral blood
Remarks -
Variants found? 1
Owner name Arrate Pereda


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
PTH1R parathyroid hormone 1 receptor 3 p22-p21.1 1 80 44 2017-02-17 BOCD, Eiken, Ollier, PFE, chondrodysplasia, metaphyseal, Murk Jansen type



Variants found

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 Both (homozygous) +/. g.46944817C>T g.46903327C>T heterozygous C→T change - PTH1R_000009 - PubMed: Duchatelet et al. 2005 - - Germline yes - - 0 - Arrate Pereda PTH1R - - - - - 16 NM_000316.2:c.1453C>T - - r.(?) p.(Arg485*) - - - - - - - - - - - - - - - - - - -
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