NM_001912.5(CTSL):c.841G>A (p.Val281Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002773115.1
Allele description
NM_001912.5(CTSL):c.841G>A (p.Val281Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Mus musculus LAS1-like (S. cerevisiae) (Las1l), transcript variant X3...
PREDICTED: Mus musculus LAS1-like (S. cerevisiae) (Las1l), transcript variant X3, misc_RNAgi|755565805|ref|XR_878108.1|Nucleotide
-
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase [Nostoc punc...
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase [Nostoc punctiforme PCC 73102]gi|186467204|gnl|jgi|Npun_F4648|gb| 005.1|Protein
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Last Updated: Feb 13, 2023