Individual #00105272

ID_report 16444273-pops
Reference PubMed: Yoshiura 2006
Remarks -
Gender -
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ear wax dry
Owner name Johan den Dunnen


Phenotypes

secretion, gland, apocrine, variation in (ear wax wet/dry, colostrum secretion, axillary odor) (ear wax dry)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000083165 ear wax (dry) - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105742 DNA SEQ - - ABCC11 1 Johan den Dunnen



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     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

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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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
16 Both (homozygous) g.48258198C>T g.48224287C>T - - ABCC11_000001 - PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 Germline - 1/12 individuals - 0 - Johan den Dunnen ABCC11 +/+ - - - - - 5 NM_032583.3:c.538G>A - - r.(?) p.(Gly180Arg) - - - - - - - - - - - - - - - - - - - - - - -
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