NM_017882.3(CLN6):c.667T>C (p.Tyr223His) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001989946.3
Allele description [Variation Report for NM_017882.3(CLN6):c.667T>C (p.Tyr223His)]
NM_017882.3(CLN6):c.667T>C (p.Tyr223His)
Condition(s)
-
cardiolipin synthase (CMP-forming) isoform 1 [Homo sapiens]
cardiolipin synthase (CMP-forming) isoform 1 [Homo sapiens]gi|10092647|ref|NP_061968.1|Protein
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Last Updated: Feb 20, 2024