Individual #00080149

ID_report -
Reference PubMed: Muhn et al.2013
Remarks -
Gender F
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     
0000059714 short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck - - Unknown - 31y - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Francesca Marta Elli



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080243 DNA SEQ blood - - 2 Francesca Marta Elli



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 11 NM_013339.3:c.391T>C, NM_002734.4:c.1003C>T - - r.(?), r.(1003c>u) p.(Tyr131His), p.(Arg335Cys) - - - - - - - - - - - - - - - - - - -
17 Unknown +?/+? g.66526447C>T - - - PRKAR1A_000009 - PubMed: Muhn et al. 2013 - - Germline ? - - 0 - Francesca Marta Elli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend