NM_000112.4(SLC26A2):c.1240_1244del (p.Ala414fs) AND Achondrogenesis, type IB
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003472871.1
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1240_1244del (p.Ala414fs)]
NM_000112.4(SLC26A2):c.1240_1244del (p.Ala414fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023