Individual #00037767

ID_report -
Reference PubMed: Zeco 2015, Journal: Zeco 2015
Remarks 3-generation family, 3 affecteds (grand mother, son, grandson)
Gender F;M
Consanguinity no
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases DFNA
Owner name Helger Yntema


Phenotypes

deafness, nonsyndromic (DFNA, autosomal dominant) (DFNA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000060258 - - - Familial, autosomal dominant - - - - - Celia Zazo-Seco



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038000 DNA PCR blood - KITLG 1 Helger Yntema



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
12 Parent #1 +/. - pathogenic g.88912635_88912637del g.88518858_88518860del - - KITLG_000004 - PubMed: Zeco 2015, Journal: Zeco 2015 - - Germline yes - - 0 - Helger Yntema KITLG - - - - - 4 NM_000899.4:c.200_202del - r.(?) p.(His67_Cys68delinsArg) - - - - - - - - - - - - - - - - - - - -
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