Genomic variant #0000036943

Individual ID 00017002
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135080347_135080350del
DNA change (hg38) -
Published as NM_006359.2:c.507+1delGTAA
ISCN -
DB-ID SLC9A6_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Gilfillan 2008, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 +/. - c.603+3_603+6del - r.526_603del p.Val176_Arg201del
SLC9A6 NM_006359.2 +/. 3i c.603+3_603+6del - r.526_603del p.Val176_Arg201del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016979 DNA SEQ - - SLC9A6 1 Johan den Dunnen