Genomic variant #0000335630

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135080689G>A
DNA change (hg38) -
Published as SLC9A6:NM_001042537.1:c.652G>A, NM_001177651.1:c.496G>A, …
ISCN -
DB-ID SLC9A6_000025
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 +?/. - c.652G>A likely pathogenic - -
SLC9A6 NM_006359.2 +?/. - c.556G>A likely pathogenic - -