NM_020533.3(MCOLN1):c.57C>T (p.Asn19=) AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001483092.9
Allele description [Variation Report for NM_020533.3(MCOLN1):c.57C>T (p.Asn19=)]
NM_020533.3(MCOLN1):c.57C>T (p.Asn19=)
Condition(s)
-
Homo sapiens UDP glucose:glycogen 4-alpha-D- glycosytransferase mRNA, complete c...
Homo sapiens UDP glucose:glycogen 4-alpha-D- glycosytransferase mRNA, complete cdsgi|1125700|gb|U32573.1|HSU32573Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024