NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) AND Achondrogenesis, type IB
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Nov 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411101.5
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)]
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)
Condition(s)
-
transcription factor E2F6 isoform 1 [Homo sapiens]
transcription factor E2F6 isoform 1 [Homo sapiens]gi|109637795|ref|NP_937987.2|Protein
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Last Updated: Sep 29, 2024