NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) AND Koolen-de Vries syndrome
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000697747.11
Allele description [Variation Report for NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)]
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)
Condition(s)
-
fidgetin-like protein 1 isoform 2 [Mus musculus]
fidgetin-like protein 1 isoform 2 [Mus musculus]gi|2623882511|ref|NP_001412580.1|Protein
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024