Variant #0000289348 (NC_000023.10:g.148585823T>C, IDS(NM_000202.5):c.104A>G)

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.148585823T>C
DNA change (hg38) g.149504293T>C
Published as IDS(NM_000202.7):c.104A>G (p.D35G), IDS(NM_000202.8):c.104A>G (p.D35G)
ISCN -
DB-ID IDS_000232 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 -?/. - c.104A>G r.(?) p.(Asp35Gly)