NM_015166.4(MLC1):c.*1398A>G AND Megalencephalic leukoencephalopathy with subcortical cysts 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001145140.4
Allele description [Variation Report for NM_015166.4(MLC1):c.*1398A>G]
NM_015166.4(MLC1):c.*1398A>G
Condition(s)
- Name:
- Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1)
- Synonyms:
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Megalencephaly-cystic leukodystrophy; Leukoencephalopathy with swelling and cysts
- Identifiers:
- MONDO: MONDO:0024555; MedGen: C5779875; Orphanet: 2478; OMIM: 604004
-
Homo sapiens PAX6 mRNA for paired box protein Pax-6, complete cds, clone: HP0637...
Homo sapiens PAX6 mRNA for paired box protein Pax-6, complete cds, clone: HP06376-ARi61A11gi|326205310|dbj|AB593094.1|Nucleotide
-
DVU0891 [Desulfovibrio vulgaris str. Hildenborough]
DVU0891 [Desulfovibrio vulgaris str. Hildenborough]Gene ID:2794203Gene
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Last Updated: Nov 11, 2023