Genomic variant #0000308531

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135104777T>C
DNA change (hg38) -
Published as SLC9A6:c.1383T>C (I461=)
ISCN -
DB-ID SLC9A6_000030
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_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SLC9A6 NM_001042537.1 -?/. - c.1383T>C likely benign r.(=) p.(=)
SLC9A6 NM_006359.2 -?/. - c.1287T>C likely benign r.(=) p.(=)