NM_022039.4(FBXW4):c.216G>A (p.Gly72=) AND Split hand-foot malformation 3
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000326478.5
Allele description [Variation Report for NM_022039.4(FBXW4):c.216G>A (p.Gly72=)]
NM_022039.4(FBXW4):c.216G>A (p.Gly72=)
Condition(s)
- Name:
- Split hand-foot malformation 3
- Synonyms:
- CHROMOSOME 10q24 DUPLICATION SYNDROME; SHSF3; Limb deficiencies distal with micrognathia; See all synonyms [MedGen]
- Identifiers:
- Gene: 100049542; MONDO: MONDO:0009525; MedGen: C1838652; OMIM: 246560
Assertion and evidence details
Last Updated: Dec 24, 2023