NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) AND Hurler syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000173657.16
Allele description [Variation Report for NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)]
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
Condition(s)
-
SNORA12[gene] (17)
ClinVar
-
Homo sapiens serine and arginine rich splicing factor 11 (SRSF11), transcript va...
Homo sapiens serine and arginine rich splicing factor 11 (SRSF11), transcript variant 5, mRNAgi|1677502091|ref|NM_001350607.2|Nucleotide
-
serine/arginine-rich splicing factor 11 isoform X5 [Homo sapiens]
serine/arginine-rich splicing factor 11 isoform X5 [Homo sapiens]gi|2462515468|ref|XP_054195617.1|Protein
-
serine/arginine-rich splicing factor 11 isoform X1 [Homo sapiens]
serine/arginine-rich splicing factor 11 isoform X1 [Homo sapiens]gi|2217272324|ref|XP_047290473.1|Protein
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Last Updated: Oct 8, 2024