NM_017882.3(CLN6):c.407del (p.Arg136fs) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002958265.3
Allele description [Variation Report for NM_017882.3(CLN6):c.407del (p.Arg136fs)]
NM_017882.3(CLN6):c.407del (p.Arg136fs)
Condition(s)
-
Homo sapiens calsenilin, presenilin binding protein, EF hand transcription facto...
Homo sapiens calsenilin, presenilin binding protein, EF hand transcription factor (CSEN), mRNAgi|21361445|ref|NM_013434.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024