NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr) AND Adrenoleukodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001868885.3
Allele description [Variation Report for NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)]
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)
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
-
chitin synthase, partial [Ramularia geranii]
chitin synthase, partial [Ramularia geranii]gi|1097203197|gb|APA36862.1|Protein
-
chitin synthase, partial [Ramularia armoraciae]
chitin synthase, partial [Ramularia armoraciae]gi|1097203187|gb|APA36857.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024