NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) AND Adrenoleukodystrophy
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Sep 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279587.3
Allele description [Variation Report for NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)]
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
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
-
Tssr9926 AND (alive[prop]) (0)
Gene
-
Gm34952 predicted gene, 34952 [Mus musculus]
Gm34952 predicted gene, 34952 [Mus musculus]Gene ID:102638370Gene
-
Gm34952 AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024