NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) AND Otospondylomegaepiphyseal dysplasia, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000261111.5
Allele description [Variation Report for NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)]
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024