NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) AND Sulfate transporter-related osteochondrodysplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000780713.2
Allele description [Variation Report for NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)]
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)
Condition(s)
- Name:
- Sulfate transporter-related osteochondrodysplasia
- Synonyms:
- DTDST-related dysplasias
- Identifiers:
- MedGen: CN120497
Assertion and evidence details
Last Updated: Sep 29, 2024