Individual #00016995

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country - (not applicable)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Johan den Dunnen


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000015354 - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016972 DNA SEQ - - SLC9A6 5 Johan den Dunnen



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
X Parent #1 -/? g.135095627C>A - - - SLC9A6_000007 - - - rs2291639 Not applicable - - - 0 - Johan den Dunnen SLC9A6 - - - - - 9i NM_001042537.1:c.1236+31C>A, NM_006359.2:c.1236+31C>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/? g.135104682G>A - - - SLC9A6_000008 - - - rs6654309 Not applicable - - - 0 - Johan den Dunnen SLC9A6 - - - - - 10i NM_001042537.1:c.1351-63G>A, NM_006359.2:c.1351-63G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/? g.135104864G>A - - - SLC9A6_000009 - - - rs6654310 Not applicable - - - 0 - Johan den Dunnen SLC9A6 - - - - - 11i NM_001042537.1:c.1462+8G>A, NM_006359.2:c.1462+8G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/? g.135112228T>C - - - SLC9A6_000010 - - - rs10521848 Not applicable - - - 0 - Johan den Dunnen SLC9A6 - - - - - 12i NM_001042537.1:c.1617-63T>C, NM_006359.2:c.1617-63T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/? g.135122262C>T - - - SLC9A6_000004 - - - rs2307131 Not applicable - - - 0 - Johan den Dunnen SLC9A6 - - - - - 15 NM_001042537.1:c.1755C>T, NM_006359.2:c.1755C>T - - r.(=), r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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