Genomic variant #0000036949

Individual ID 00016995
Chromosome X
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.135104864G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC9A6_000009 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs6654310
Origin Not applicable
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.07886 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 ?/? - c.1462+8G>A - r.(=) p.(=)
SLC9A6 NM_006359.2 -/? 11i c.1462+8G>A - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016972 DNA SEQ - - SLC9A6 5 Johan den Dunnen