Genomic variant #0000302317

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135122231G>A
DNA change (hg38) -
Published as SLC9A6:c.1728-4G>A
ISCN -
DB-ID SLC9A6_000018 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00786 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 -/. - c.1728-4G>A benign r.spl? p.?
SLC9A6 NM_006359.2 -/. - c.1632-4G>A benign r.spl? p.?