Individual #00080163

ID_report -
Reference PubMed: Michot et al.2012
Remarks -
Gender M
Consanguinity ?
Country - (not applicable)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ACRDYS-1
Owner name Francesca Marta Elli


Phenotypes

acrodysostosis, with/without hormone resistance (ACRDYS-1) (ACRDYS-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Stature     

Growth     

Malformation/Genital     

Thyroid/Dysfunction     

Hearing/Loss     

Nose/Bridge     

Nose/Alae     

Teeth/Anomalies     

Scoliosis     

Brachydactyly     

Bone/Age     

Teeth/Number     

Eye/Orbital     

Protein     

Head/Skull     

Calcification     

Face/Cheeks     

Development     

Eye/Lens/Cataract     

Eye/Movement     

Face/Shape     

Facial/Nose     

Hand_Feet/Abnormal     

Hair/Pigmentation     

Hormone     

Calcium     

Intellectual_dis     

Ion_Homeostasis     

Neck     

Weight     

Ossification/Ectopic     

Bone/Density     

Puberty     

Reproduction/Abnormal/Physiology     

Testis/Abnormal     

Vitamin     

Owner     
0000059728 PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses - - Unknown - 08y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080257 DNA SEQ blood - - 2 Francesca Marta Elli



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown ?/. g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma AMPD1, PRKAR1A - - - - - 11 NM_000036.2:c.242C>T, NM_002734.4:c.1102C>T - - r.(?), r.(1102c>u) p.(Pro81Leu), p.(Arg368*) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/+? g.66526546C>T g.68530405C>T - - PRKAR1A_000010 - PubMed: Michot et al. 2012 - - Germline ? - - 0 - Francesca Marta Elli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend