NM_014112.5(TRPS1):c.1902C>G (p.Phe634Leu) AND Trichorhinophalangeal Syndrome
- Germline classification:
- Uncertain significance (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:
- RCV000310495.1
Allele description
NM_014112.5(TRPS1):c.1902C>G (p.Phe634Leu)
Condition(s)
- Name:
- Trichorhinophalangeal Syndrome
- Identifiers:
- MONDO: MONDO:0017951; MedGen: C0265255
Assertion and evidence details
Last Updated: Apr 18, 2020