NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) AND Adrenoleukodystrophy
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- May 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000029284.4
Allele description [Variation Report for NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)]
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
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
-
aluminum induced protein with YGL and LRDR motifs [Arabidopsis thaliana]
aluminum induced protein with YGL and LRDR motifs [Arabidopsis thaliana]gi|15239658|ref|NP_197415.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024