NM_020533.3(MCOLN1):c.572-17T>C AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003506396.2
Allele description [Variation Report for NM_020533.3(MCOLN1):c.572-17T>C]
NM_020533.3(MCOLN1):c.572-17T>C
Condition(s)
-
Homo sapiens DExD-box helicase 50 (DDX50), mRNA
Homo sapiens DExD-box helicase 50 (DDX50), mRNAgi|1519316294|ref|NM_024045.2|Nucleotide
-
TPA_inf: Homo sapiens olfactory receptor OR11-232 gene, complete cds
TPA_inf: Homo sapiens olfactory receptor OR11-232 gene, complete cdsgi|43918188|tpg|BK004299.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024