Genomic variant #0000350020

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135092614T>C
DNA change (hg38) -
Published as SLC9A6:NM_006359.2(SLC9A6):c.817T>C (Tyr273His)
ISCN -
DB-ID SLC9A6_000037
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_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 ?/. - c.913T>C VUS r.(?) p.(Tyr305His)
SLC9A6 NM_006359.2 ?/. - c.817T>C VUS r.(?) p.(Tyr273His)