NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) AND Acrocallosal syndrome
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000316792.22
Allele description [Variation Report for NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)]
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
Condition(s)
- Name:
- Acrocallosal syndrome (ACLS)
- Synonyms:
- HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Acrocallosal syndrome, Schinzel type; Schinzel syndrome 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990
Assertion and evidence details
Last Updated: Jun 2, 2024