Individual #00207697

ID_report -
Reference NOT PUBLISHED
Remarks 2-generation family, 2 affecteds (mother and son)
Gender F
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BD
Owner name Arrate Pereda


Phenotypes

brachydactyly (BD) (BD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000155488 HP:0000545 (myopia magna); HP:0004322 brachydactyly type E brachydactyly type E Unknown 50y 50y - - - Arrate Pereda



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208738 DNA SEQ complete blood - PTHLH 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     
12 Unknown +?/+? g.28116706T>C - - - PTHLH_000013 - NOT DESCRIBED - - Unknown yes - - 0 - Arrate Pereda PTHLH - - - - - 4i NM_198965.1:c.102-3A>G - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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