NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) AND Adrenoleukodystrophy
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085784.12
Allele description [Variation Report for NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)]
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
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
-
hywnt9/10a [Hydra vulgaris]
hywnt9/10a [Hydra vulgaris]Gene ID:100215038Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024