NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) AND Infantile cortical hyperostosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001125399.4
Allele description [Variation Report for NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)]
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
Condition(s)
-
serine/threonine-protein kinase 4 isoform X2 [Rattus norvegicus]
serine/threonine-protein kinase 4 isoform X2 [Rattus norvegicus]gi|1958762213|ref|XP_038961058.1|Protein
-
transcription factor [Klebsormidium nitens]
transcription factor [Klebsormidium nitens]gi|971515402|dbj|GAQ82768.1|Protein
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Last Updated: Oct 8, 2024