Variant #0000619107 (NC_000023.10:g.148586649C>G, IDS(NM_000202.5):c.19G>C)

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.148586649C>G
DNA change (hg38) g.149505119C>G
Published as IDS(NM_000202.7):c.19G>C (p.G7R)
ISCN -
DB-ID IDS_000249
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.19G>C r.(?) p.(Gly7Arg)