chr4:987858:C>T Detail (hg38) (IDUA, SLC26A1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:981,646-981,646 View the variant detail on this assembly version.
hg38	chr4:987,858-987,858

HGVS

IDUA
SLC26A1

Type	Transcript	Protein
RefSeq	NM_000203.4:c.208C>T	NP_000194.2:p.Gln70Ter
	NR_110313.1:c.208C>T
Ensemble	ENST00000247933.9:c.208C>T	ENST00000247933.9:p.Gln70Ter
	ENST00000514224.2:c.208C>T	ENST00000514224.2:p.Gln70Ter

Type	Transcript	Protein
RefSeq	NM_213613.3:c.*975G>A
	NM_022042.3:c.*975G>A
	NM_134425.2:c.576+3270G>A
Ensemble	ENST00000361661.6:c.*975G>A
	ENST00000398516.3:c.*975G>A
	ENST00000398520.6:c.576+3270G>A
	ENST00000622731.4:c.576+3270G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	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

IDUA
SLC26A1

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
	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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-11-12	criteria provided, multiple submitters, no conflicts	Hurler syndrome	germline unknown	Detail
Pathogenic	2018-12-03	criteria provided, single submitter	Mucopolysaccharidosis, MPS-I-H/S	germline	Detail
Pathogenic	2019-06-12	criteria provided, single submitter	Mucopolysaccharidosis, MPS-I-S	germline unknown	Detail
Pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	Mucopolysaccharidosis type 1	germline	Detail
Pathogenic	2022-04-08	criteria provided, single submitter	Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S	unknown	Detail
Pathogenic	2022-04-08	criteria provided, single submitter	Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S	unknown	Detail
Pathogenic	2022-04-08	criteria provided, single submitter	Hurler syndrome,Mucopolysaccharidosis, MPS-I-H/S,Mucopolysaccharidosis, MPS-I-S	unknown	Detail
Pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic		criteria provided, single submitter		maternal	Detail
Pathogenic	2022-08-29	criteria provided, single submitter	IDUA-related disorder	germline	Detail
Pathogenic	2023-08-06	criteria provided, single submitter	mucopolysaccharidosis	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
0.452	Pfaundler-Hurler Syndrome	alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler ph...	BeFree	1301941	Detail
<0.001	Mental Retardation	Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (I...	BeFree	16478590	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Hurler syndrome	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Mucopolysaccharidosis, MPS-I-H/S	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Mucopolysaccharidosis, MPS-I-S	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Mucopolysaccharidosis type 1	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND multiple conditions	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND multiple conditions	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND multiple conditions	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND not provided	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Interstitial pneumonitis	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND IDUA-related disorder	ClinVar	Detail
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) AND Mucopolysaccharidosis	ClinVar	Detail
Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity fo...	DisGeNET	Detail
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.	DisGeNET	Detail
Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a s...	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: rs121965020 dbSNP
Genome: hg38
Position: chr4:987,858-987,858
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8242
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): 110236
Allele Counts in All Race (ExAC): 72
Heterozygous Counts in All Race (ExAC): 72
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.53144163431184E-4

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