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:
- RCV003916575.2
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:
-
hexosaminidase 1, isoform A [Drosophila melanogaster]
hexosaminidase 1, isoform A [Drosophila melanogaster]gi|17647501|ref|NP_523924.1|Protein
-
BJ093574 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ093574 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL142n18 5', mRNA sequencegi|17593214|gnl|dbEST|10561897|dbj| 574.1|Nucleotide
-
CR574679 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA040l19 5', mRNA sequ...
CR574679 XGC-tailbud-head Xenopus tropicalis cDNA clone THdA040l19 5', mRNA sequencegi|50462105|gnl|dbEST|24659887|emb| 679.1|Nucleotide
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Last Updated: Oct 13, 2024