Genomic variant #0000302316

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.135115628G>A
DNA change (hg38) g.136033469G>A
Published as SLC9A6(NM_001042537.1):c.1703G>A (p.R568Q)
ISCN -
DB-ID SLC9A6_000003 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) 0.00199 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC9A6 NM_001042537.1 -?/. - c.1703G>A r.(?) p.(Arg568Gln)
SLC9A6 NM_006359.2 -?/. - c.1607G>A r.(?) p.(Arg536Gln)