Individual #00000133

Individual_ID -
Reference -
Remarks These individuals have profound X-linked hearing loss
Gender M
Consanguinity ?
Country Canada
Population Newfoundland, Caucasian
Age/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     

Remarks     

Genes screened     

Variants found     

Owner     
0000000124 DNA PCR;SEQ - - SMPX 1 Terry-Lynn Young
0000117162 DNA;RNA RT-PCR;MCA;SEQ;SEQ - - MBTPS2 Not yet submitted Emmelien Aten



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

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.     

Published as     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Effect in vitro     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

Type     

Conservation     

CpG     

DB CrossRef     

Enzyme activity     

FunctionalPrediction     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

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 yes - - - - Terry-Lynn Young SMPX +/? - - - - - - 3 NM_014332.1:c.99del - - - r.(99del) p.(Arg34Glufs*47) - - - - - - - - - - - - - - - - - - - - - - - - - - -
Legend