Variant #0000574061 (NC_000023.10:g.148586645C>A, IDS(NM_000202.5):c.23G>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.148586645C>A
DNA change (hg38) g.149505115C>A
Published as IDS(NM_000202.7):c.23G>T (p.R8L)
ISCN -
DB-ID IDS_000245
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 -?/. - c.23G>T r.(?) p.(Arg8Leu)