chr4:987916:G>A Detail (hg38) (IDUA, SLC26A1)

Information

Genome

Assembly Position
hg19 chr4:981,704-981,704 View the variant detail on this assembly version.
hg38 chr4:987,916-987,916

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.266G>A NP_000194.2:p.Arg89Gln
NR_110313.1:c.266G>A
Ensemble ENST00000247933.9:c.266G>A ENST00000247933.9:p.Arg89Gln
Type Transcript Protein
RefSeq NM_213613.3:c.*917C>T
NM_022042.3:c.*917C>T
NM_134425.2:c.576+3212C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 252800 OMIM
HGNC 5391 HGNC
Ensembl ENSG00000127415 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15776445 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 610130 OMIM
HGNC 10993 HGNC
Ensembl ENSG00000145217 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15776445 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1996-01-01 no assertion criteria provided Mucopolysaccharidosis, MPS-I-H/S germline Detail
Pathogenic 1996-01-01 no assertion criteria provided Hurler syndrome germline Detail
Pathogenic 2023-06-04 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome Previous studies in Caucasian populations showed that (1) homozygosity or compou... BeFree 8664897 Detail
0.153 mucopolysaccharidosis I The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopoly... BeFree 14559116 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) AND Mucopolysaccharidosis, MPS-I-H/S ClinVar Detail
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) AND Mucopolysaccharidosis type 1 ClinVar Detail
Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity fo... DisGeNET Detail
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121965029 dbSNP
Genome
hg38
Position
chr4:987,916-987,916
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1181
Mean of sample read depth (HGVD)
35.55
Standard deviation of sample read depth (HGVD)
16.50
Number of reference allele (HGVD)
2361
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.233700254022015E-4
Gene Symbol (HGVD)
IDUA
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121965029
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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