NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=) AND Frank-Ter Haar syndrome
- Germline classification:
- Uncertain significance (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:
- RCV001154554.4
Allele description [Variation Report for NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=)]
NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=)
Condition(s)
- Name:
- Frank-Ter Haar syndrome
- Synonyms:
- MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE; Ter Haar syndrome; Autosomal recessive Melnick-Needles syndrome (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009579; MedGen: C1855305; Orphanet: 1266; Orphanet: 137834; OMIM: 249420
Assertion and evidence details
Last Updated: Feb 20, 2024