NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) AND Achondrogenesis, type IB
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475138.1
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs)]
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs)
Condition(s)
-
AGPAT3 [Chlorocebus sabaeus]
AGPAT3 [Chlorocebus sabaeus]Gene ID:103219663Gene
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Last Updated: Mar 5, 2024