chr4:995950:G>A Detail (hg19) (IDUA)

Information

Genome

Assembly Position
hg19 chr4:995,950-995,950
hg38 chr4:1,002,162-1,002,162 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000203.4:c.972+1G>A
NR_110313.1:c.972+1G>A
Ensemble ENST00000247933.9:c.972+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-11-21 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-02-26 criteria provided, single submitter Mucopolysaccharidosis type 1 germline 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.972+1G>A AND not provided ClinVar Detail
NM_000203.5(IDUA):c.972+1G>A AND Mucopolysaccharidosis type 1 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs794727840 dbSNP
Genome
hg19
Position
chr4:995,950-995,950
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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