NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) AND Cutis laxa
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001121879.5
Allele description [Variation Report for NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)]
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
Condition(s)
- Name:
- Cutis laxa
- Identifiers:
- MONDO: MONDO:0016175; MedGen: C0010495; Human Phenotype Ontology: HP:0000973
Assertion and evidence details
Last Updated: May 12, 2024