View individual #00000133

Reference -
Remarks These individuals have profound X-linked hearing loss
Gender M
Consanguinity ?
Geographic origin Canada
Ethnic origin Newfoundland, Caucasian
Age of death -
VIP -
Data_av -
Treatment -
Panel size 6
Diseases DFNX-4
Owner name Terry-Lynn Young


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000124 DNA PCR;SEQ - SMPX 1 Terry-Lynn Young



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Genetic origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

Domain     

IDbase Accession Number     

VariO Annotation DNA level     

VariO Annotation protein level     

VariO Annotation RNA level     

Exon     

DNA change (cDNA)     

Haplotype     

Class.     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Reference for effect in vivo     

Effect in vivo     

Reference for effect in vitro     

Effect in vitro     

Reference for effect on metabolism     

Effect on drug metabolism     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

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Predict/PolyPhenScore     

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Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/Splice     

Protein level     
X Unknown g.21761901del c.99delC - SMPX_000005 This mutation has been associated with X-linked hearing loss at the DFNX4 locus, in two Newfoundland families. - - Germline (inherited) yes - - - - Terry-Lynn Young SMPX +/? - - - - - - 3 NM_014332.1:c.99del - - r.(99del) p.(Arg34Glufs*47) - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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