NM_020533.3(MCOLN1):c.585G>A (p.Val195=) AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001438328.7
Allele description [Variation Report for NM_020533.3(MCOLN1):c.585G>A (p.Val195=)]
NM_020533.3(MCOLN1):c.585G>A (p.Val195=)
Condition(s)
-
Homo sapiens R-spondin 1 (RSPO1), transcript variant 2, mRNA
Homo sapiens R-spondin 1 (RSPO1), transcript variant 2, mRNAgi|1519314108|ref|NM_001242908.2|Nucleotide
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Last Updated: Sep 29, 2024