Full data view for gene SLC9A6

Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1543G>T pathogenic r.(?) p.(Glu515*) Unknown g.135112313G>T - SLC9A6(NM_001042537.1):c.1639G>T (p.Glu547X) - SLC9A6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1543G>T - r.(?) p.(Glu515*) Maternal (confirmed) g.135112313G>T - - - SLC9A6_000038 - PubMed: Pescosolido 2014 - - Germline yes - - 0 - DNA SEQ - - MRX;IDX 25044251-Fam11 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - 0 - - 3 Johan den Dunnen
+/. - c.1543G>T - r.(?) p.(Glu515*) Maternal (confirmed) g.135112313G>T - - - SLC9A6_000038 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES MRX;IDX 24123876-FamW08-0135 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 2 affected brothers, unaffected carrier mother M no Netherlands - - 0 - - 3 Johan den Dunnen
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