NM_198525.3(KIF7):c.*344T>C AND Acrocallosal syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000383066.5
Allele description [Variation Report for NM_198525.3(KIF7):c.*344T>C]
NM_198525.3(KIF7):c.*344T>C
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: Dec 24, 2023