NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) AND Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002048772.3
Allele description [Variation Report for NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser)]
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser)
Condition(s)
Assertion and evidence details
Last Updated: May 12, 2024