NM_198525.3(KIF7):c.3999G>A (p.Pro1333=) AND Acrocallosal syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003874499.1
Allele description [Variation Report for NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)]
NM_198525.3(KIF7):c.3999G>A (p.Pro1333=)
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: Mar 5, 2024