NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) AND Adrenoleukodystrophy
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395704.14
Allele description [Variation Report for NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)]
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)
Condition(s)
- Name:
- Adrenoleukodystrophy (ALD)
- Synonyms:
- ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018544; MedGen: C0162309; OMIM: 300100
-
NMA01444 Mus Musculus Lateral Ventricle Wall C57BL/6 adult Mus musculus cDNA 5',...
NMA01444 Mus Musculus Lateral Ventricle Wall C57BL/6 adult Mus musculus cDNA 5', mRNA sequencegi|56898756|gnl|dbEST|26865328|gb|C 64.1|Nucleotide
-
net net [Drosophila melanogaster]
net net [Drosophila melanogaster]Gene ID:45339Gene
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024