Individual #00100345

ID_report -
Reference PubMed: Duchatelet 2005
Remarks -
Gender F
Consanguinity yes
Country (France)
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel ID 00100344
Panel size 1
Diseases Eiken
Owner name Arrate Pereda


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100749 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 Both (homozygous) +/. g.46944817C>T g.46903327C>T c.480C>A (p.160K>N) - 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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