Genomic variant #0000345477

Chromosome X
Allele Unknown
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 SLC9A6(NM_001042537.1):c.1639G>T (p.Glu547X)
ISCN -
DB-ID SLC9A6_000038 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




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 pathogenic r.(?) p.(Glu515*)