Genomic variant #0000573691

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.135067874C>A
DNA change (hg38) -
Published as SLC9A6(NM_001042537.1):c.213C>A (p.S71R)
ISCN -
DB-ID SLC9A6_000049
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 +?/. - c.213C>A likely pathogenic r.(?) p.(Ser71Arg)
SLC9A6 NM_006359.2 +?/. - c.213C>A likely pathogenic r.(?) p.(Ser71Arg)