NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys) AND Adrenoleukodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001962277.5
Allele description [Variation Report for NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)]
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)
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
-
BB306616 RIKEN full-length enriched, adult male corpora quadrigemina Mus musculu...
BB306616 RIKEN full-length enriched, adult male corpora quadrigemina Mus musculus cDNA clone B230208N07 3' similar to D83206 Mouse mRNA for P24 protein, mRNA sequencegi|9007321|gnl|dbEST|5185227|dbj|BB 6.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024