Variant #0000289351 (NC_000023.10:g.148585003G>A, IDS(NM_000202.5):c.257C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148585003G>A
DNA change (hg38) g.149503473G>A
Published as IDS(NM_000202.7):c.257C>T (p.P86L)
ISCN -
DB-ID IDS_000026 See all 7 reported entries
Variant remarks VKGL data sharing initiative Nederland
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. - c.257C>T r.(?) p.(Pro86Leu)