Variant #0000574058 (NC_000023.10:g.148585691G>C, IDS(NM_000202.5):c.236C>G)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.148585691G>C
DNA change (hg38) g.149504161G>C
Published as IDS(NM_000202.5):c.236C>G (p.(Ala79Gly))
ISCN -
DB-ID IDS_000243
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) 9.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 ?/. - c.236C>G r.(?) p.(Ala79Gly)