NM_133642.5(LARGE1):c.984C>G (p.Leu328=) AND LARGE1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003916575.1
Allele description [Variation Report for NM_133642.5(LARGE1):c.984C>G (p.Leu328=)]
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
Condition(s)
- Name:
- LARGE1-related disorder
- Synonyms:
- LARGE1-related condition
- Identifiers:
-
Tssr9926 AND (alive[prop]) (0)
Gene
-
Gm34952 predicted gene, 34952 [Mus musculus]
Gm34952 predicted gene, 34952 [Mus musculus]Gene ID:102638370Gene
-
Gm34952 AND (alive[prop]) (1)
Gene
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Last Updated: May 19, 2024