Genomic variant #0000036942

Individual ID 00016992
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.135080347_135080350del
DNA change (hg38) -
Published as IVS3+1del4
ISCN -
DB-ID SLC9A6_000006 See all 2 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) Variant not found in online data sets
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_006359.2 +/? 3i c.603+3_603+6del - r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016969 DNA SEQ - - SLC9A6 1 Lucy Raymond