Genomic variant #0000369170

Individual ID 00164641
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135112313G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC9A6_000038 See all 3 reported entries
Variant remarks -
Reference PubMed: Schuurs-Hoeijmakers 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 +/. - c.1639G>T pathogenic r.(?) p.(Glu547*)
SLC9A6 NM_006359.2 +/. - c.1543G>T - r.(?) p.(Glu515*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165505 DNA SEQ;SEQ-NG - WES SLC9A6 1 Johan den Dunnen