chr4:996555:G>C Detail (hg19) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:996,555-996,555
hg38 chr4:1,002,767-1,002,767 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg
NR_110313.1:c.1225G>C
Ensemble ENST00000247933.9:c.1225G>C ENST00000247933.9:p.Gly409Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.006
ToMMo:0.008
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.023

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv15778037 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-08-01 no assertion criteria provided Hurler syndrome germline Detail
Conflicting interpretations of pathogenicity 2022-03-07 criteria provided, conflicting interpretations not specified germline unknown Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis type 1 germline Detail
Benign Likely benign 2020-12-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2019-05-28 criteria provided, single submitter Hurler syndrome germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israe... UNIPROT 8328452 Detail
0.452 Pfaundler-Hurler Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.3(IDUA):c.[1225G>C;1962A>T] AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) AND not specified ClinVar Detail
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) AND Mucopolysaccharidosis type 1 ClinVar Detail
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) AND not provided ClinVar Detail
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) AND Hurler syndrome ClinVar Detail
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic ... DisGeNET Detail
NA 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
rs199794428 dbSNP
Genome
hg19
Position
chr4:996,555-996,555
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
932
Mean of sample read depth (HGVD)
25.20
Standard deviation of sample read depth (HGVD)
11.60
Number of reference allele (HGVD)
1852
Number of alternative allele (HGVD)
12
Allele Frequency (HGVD)
0.006437768240343348
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))
rs11934801
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
137
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
East Asian Chromosome Counts (ExAC)
130
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.023076923076923078
Chromosome Counts in All Race (ExAC)
10336
Allele Counts in All Race (ExAC)
34
Heterozygous Counts in All Race (ExAC)
34
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.003289473684210526
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