Genomic variant #0000036954

Individual ID 00017001
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.135084333_135084338del
DNA change (hg38) -
Published as -
ISCN -
DB-ID SLC9A6_000012
Variant remarks linkage analysis
Reference PubMed: Gilfillan 2008, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
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.860_865del - r.(?) p.(Glu287_Ser288del)
SLC9A6 NM_006359.2 +/? 6 c.860_865del - r.(?) p.(Glu287_Ser288del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016978 DNA SEQ - - SLC9A6 1 Johan den Dunnen