NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) AND Sulfate transporter-related osteochondrodysplasia
- 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:
- RCV001151623.4
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu)]
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu)
Condition(s)
- Name:
- Sulfate transporter-related osteochondrodysplasia
- Synonyms:
- DTDST-related dysplasias
- Identifiers:
- MedGen: CN120497
Assertion and evidence details
Last Updated: Sep 29, 2024