NM_130468.4(CHST14):c.61G>A (p.Ala21Thr) AND Ehlers-Danlos syndrome, musculocontractural type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001334470.1
Allele description [Variation Report for NM_130468.4(CHST14):c.61G>A (p.Ala21Thr)]
NM_130468.4(CHST14):c.61G>A (p.Ala21Thr)
Condition(s)
Assertion and evidence details
Last Updated: Oct 14, 2023