Genomic variant #0000036939

Individual ID 00016989
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.135115628G>A
DNA change (hg38) -
Published as NM_006359.2:c.1607G>A (R536Q)
ISCN -
DB-ID SLC9A6_000003 See all 4 reported entries
Variant remarks found once, non-recurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00199 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_006359.2 +?/? 14 c.1703G>A - r.(?) p.(Arg568Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016966 DNA SEQ - - SLC9A6 1 Lucy Raymond