NM_001042424.3(NSD2):c.*9G>A AND 4p partial monosomy syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391606.1
Allele description
NM_001042424.3(NSD2):c.*9G>A
Condition(s)
- Name:
- 4p partial monosomy syndrome (WHS)
- Synonyms:
- CHROMOSOME 4p16.3 DELETION SYNDROME; Wolf syndrome; Chromosome 4p syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008684; MedGen: C1956097; Orphanet: 280; OMIM: 194190
Assertion and evidence details
Last Updated: Apr 18, 2020