NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=) AND Mucolipidosis type IV
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003614533.2
Allele description [Variation Report for NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=)]
NM_020533.3(MCOLN1):c.1305C>A (p.Ile435=)
Condition(s)
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Lagotis praecox voucher SunH11149 (KUN) internal transcribed spacer 1, partial s...
Lagotis praecox voucher SunH11149 (KUN) internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 26S ribosomal RNA gene, partial sequencegi|498542118|gb|KC413444.1|Nucleotide
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Lagotis integrifolia voucher SunH11166 (KUN) 26S ribosomal RNA gene and internal...
Lagotis integrifolia voucher SunH11166 (KUN) 26S ribosomal RNA gene and internal transcribed spacer 1, partial sequence; and 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequencegi|498542111|gb|KC413437.1|Nucleotide
-
Homo sapiens solute carrier family 9 member A3 (SLC9A3), transcript variant 2, m...
Homo sapiens solute carrier family 9 member A3 (SLC9A3), transcript variant 2, mRNAgi|1676439559|ref|NM_001284351.3|Nucleotide
-
BP679532 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP679532 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL432c13ex 5', mRNA sequencegi|46027487|gnl|dbEST|22929272|dbj| 532.1|Nucleotide
-
Potassium intermediate/small conductance calcium-activated channel, subfamily N,...
Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 [Mus musculus]gi|16307452|gb|AAH10274.1|Protein
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Last Updated: Sep 29, 2024