NM_025000.4(DCAF17):c.1182+7C>A AND Woodhouse-Sakati syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003598606.1
Allele description [Variation Report for NM_025000.4(DCAF17):c.1182+7C>A]
NM_025000.4(DCAF17):c.1182+7C>A
Condition(s)
- Name:
- Woodhouse-Sakati syndrome
- Synonyms:
- Extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; Progressive extrapyramidal disorder with primary hypogonadism and alopecia; Woodhouse and Sakati syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009419; MedGen: C0342286; Orphanet: 3464; OMIM: 241080
-
integrin alpha-7 isoform 13 precursor [Homo sapiens]
integrin alpha-7 isoform 13 precursor [Homo sapiens]gi|2328705340|ref|NP_001400963.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024