chr4:998080:C>T Detail (hg19) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:998,080-998,080
hg38 chr4:1,004,292-1,004,292 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.1861C>T NP_000194.2:p.Arg621Ter
NR_110313.1:c.1861C>T
Ensemble ENST00000247933.9:c.1861C>T ENST00000247933.9:p.Arg621Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv15778320 TogoVar
COSMIC COSM3607276 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-06-30 criteria provided, single submitter Hurler syndrome germline unknown Detail
Pathogenic 2023-10-27 criteria provided, multiple submitters, no conflicts Mucopolysaccharidosis type 1 germline Detail
Pathogenic 2022-07-30 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-11-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-I-H/S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-S unknown Detail
Pathogenic 2021-11-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-I-H/S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-S unknown Detail
Pathogenic 2021-11-07 criteria provided, single submitter Mucopolysaccharidosis, MPS-I-H/S,Hurler syndrome,Mucopolysaccharidosis, MPS-I-S unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.452 Pfaundler-Hurler Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND Hurler syndrome ClinVar Detail
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND Mucopolysaccharidosis type 1 ClinVar Detail
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND not provided ClinVar Detail
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND multiple conditions ClinVar Detail
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND multiple conditions ClinVar Detail
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) AND multiple conditions ClinVar 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
rs121965025 dbSNP
Genome
hg19
Position
chr4:998,080-998,080
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs121965025
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
East Asian Chromosome Counts (ExAC)
8506
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119442
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6744528725239027E-5
Genome browser