NM_000310.4(PPT1):c.840A>G (p.Leu280=) AND Neuronal ceroid lipofuscinosis 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001498424.14
Allele description [Variation Report for NM_000310.4(PPT1):c.840A>G (p.Leu280=)]
NM_000310.4(PPT1):c.840A>G (p.Leu280=)
Condition(s)
- Name:
- Neuronal ceroid lipofuscinosis 1 (CLN1)
- Synonyms:
- CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; CLN1 variable age at onset; Infantile CLN (type of CLN1); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009744; MedGen: C1850451; OMIM: 256730
-
Tubulin, beta 2C [Mus musculus]
Tubulin, beta 2C [Mus musculus]gi|13542680|gb|AAH05547.1|Protein
-
Histone cluster 3, H2a [Rattus norvegicus]
Histone cluster 3, H2a [Rattus norvegicus]gi|71051166|gb|AAH99140.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024