NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) AND Short-rib thoracic dysplasia 14 with polydactyly
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 6, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000190840.2
Allele description [Variation Report for NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)]
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022