Individual #00222748

ID_report -
Reference -
Remarks 2-generation family, 7 affecteds (4F, 3M)
Gender M
Consanguinity no
Country China
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases IBGC-1
Owner name Wanjin Chen


Phenotypes

calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr's syndrome) (IBGC-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000167949 brain calcifications - - Familial, autosomal dominant - - - - - Wanjin Chen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000223819 DNA PCRq - - SLC20A2 1 Wanjin Chen
0000223823 DNA PCR - - SLC20A2 1 Wanjin Chen



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     
8 Unknown -?/. g.42297103C>G - - - SLC20A2_000054 - - - - Germline yes - - 0 - Wanjin Chen SLC20A2 - - - - - 7 NM_006749.4:c.799G>C - likely benign r.(?) p.(Glu267Gln) - - - - - - - - - - - - - - - - - - -
8 Unknown +/. g.(42297172_42302163)_(42302281_42317413)del - - - SLC20A2_000055 - - - - Germline yes - - 0 - Wanjin Chen SLC20A2 - - - - - 5i_6i NM_006749.4:c.(613+1_614-1)_(730+1_731-1)del - pathogenic (dominant) r.? p.? - - - - - - - - - - - - - - - - - - -
Legend