NM_006493.4(CLN5):c.359T>C (p.Ile120Thr) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003648823.1
Allele description [Variation Report for NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)]
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)
Condition(s)
-
PREDICTED: Homo sapiens S100 calcium binding protein A13 (S100A13), transcript v...
PREDICTED: Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant X17, mRNAgi|2217269904|ref|XM_047427433.1|Nucleotide
-
hypothetical protein [Corynebacterium urealyticum]
hypothetical protein [Corynebacterium urealyticum]gi|501327740|ref|WP_012359375.1|Protein
-
Recommendations for Future Research - Diagnosis and Treatment of Parkinson's Dis...
Recommendations for Future Research - Diagnosis and Treatment of Parkinson's Disease
-
References - Diagnosis and Treatment of Parkinson's Disease
References - Diagnosis and Treatment of Parkinson's Disease
-
Human high-affinity copper uptake protein (hCTR1) mRNA, complete cds
Human high-affinity copper uptake protein (hCTR1) mRNA, complete cdsgi|2315986|gb|U83460.1|HSU83460Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024