Individual #00029430

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PHP-1C
Owner name Ralf Werner


Phenotypes

pseudohypoparathyroidism, type Ic (PHP-1C) (PHP-1C)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Stature     

Growth     

Teeth/Anomalies     

Brachydactyly     

Bone/Age     

Protein     

Calcification     

Face/Shape     

Hormone     

Calcium     

Intellectual_dis     

Ion_Homeostasis     

Weight     

Ossification/Ectopic     

Puberty     

Vitamin     

Owner     
0000025462 AHO phenotype - - Unknown - - - - - - - - - - - - - - - - - - - - Ralf Werner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029473 DNA SEQ - - GNAS 1 Ralf Werner



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
20 Maternal (confirmed) g.57485862T>G g.58910807T>G 1163T>G - GNAS_000048 - - - - Germline - - - 0 - Ralf Werner GNAS +/. - - - - - 13 NM_001077488.2:c.1166T>G - - r.(?) p.(Leu389Arg) - - - - - - - - - - - - - - - - - - - - - - -
Legend