Screening #0000165503

Individual ID 00164639
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 X q26.3 2 88 54 2019-07-16 ID, MRXSCH



Variants found

1 entry on 1 page. Showing entry 1.
Legend  

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 Maternal (confirmed) +/. g.135112313G>T - - - SLC9A6_000038 - PubMed: Pescosolido 2014 - - Germline yes - - 0 - Johan den Dunnen SLC9A6 - - - - - 13 NM_001042537.1:c.1639G>T, NM_006359.2:c.1543G>T - pathogenic, r.(?) p.(Glu547*), p.(Glu515*) - - - - - - - - - - - - - - - - - - -
Legend