Individual #00073766

ID_report 27068316-FamPatII2
Reference PubMed: Duong 2016, Journal: Duong 2016
Remarks 3-generation family, 8 affetecds (4F, 4M), case 1 (PatII2)
Gender M
Consanguinity -
Country Germany;Italy
Population -
Age/Death >41y (later than 41 years)
VIP 0
Data_av -
Treatment -
Panel size 8
Diseases GDD
Owner name Pieter Klap


Phenotypes

dysplasia, gnathodiaphyseal (GDD) (GDD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000054163 mandibular osteomyelitis (HP:0007626), increased susceptibility to fractures (HP:0002659), ... - - Familial, autosomal dominant 41y - - - - Pieter Klap



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073927 DNA SEQ - - ANO5 1 Pieter Klap



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     
11 Paternal (inferred) +/. g.22272340G>A g.22250794G>A - - ANO5_000077 - PubMed: Duong 2016, Journal: Duong 2016 - - Germline yes - - 0 - Pieter Klap ANO5 - - - - - 11 NM_213599.2:c.1067G>A - - r.(?) p.(Asp81Gly) - - - - - - - - - - - - - - - - - - -
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