NM_006494.4(ERF):c.1263G>C (p.Pro421=) AND TWIST1-related craniosynostosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000558684.7
Allele description [Variation Report for NM_006494.4(ERF):c.1263G>C (p.Pro421=)]
NM_006494.4(ERF):c.1263G>C (p.Pro421=)
Condition(s)
-
kinesin light chain 1 [Homo sapiens]
kinesin light chain 1 [Homo sapiens]gi|197692299|dbj|BAG70113.1|Protein
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Last Updated: Aug 4, 2024