NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) AND Achondrogenesis, type IB
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472418.1
Allele description [Variation Report for NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)]
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024