Genomic variant #0000573696

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135106646A>G
DNA change (hg38) -
Published as SLC9A6(NM_001042537.1):c.1616+4A>G (p.?)
ISCN -
DB-ID SLC9A6_000052 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 -
Methylation -
Average frequency (large NGS studies) 0.00246 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.1616+4A>G likely benign r.spl? p.?
SLC9A6 NM_006359.2 -?/. - c.1520+4A>G likely benign r.spl? p.?