NM_015443.4(KANSL1):c.2591del (p.Asn864fs) AND Koolen-de Vries syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253770.2
Allele description [Variation Report for NM_015443.4(KANSL1):c.2591del (p.Asn864fs)]
NM_015443.4(KANSL1):c.2591del (p.Asn864fs)
Condition(s)
-
RK053A1E09.T7 Zebrafish Kidney Marrow cDNA library Danio rerio cDNA clone RK053A...
RK053A1E09.T7 Zebrafish Kidney Marrow cDNA library Danio rerio cDNA clone RK053A1E09 3', mRNA sequencegi|31786851|gnl|dbEST|18721168|gb|C 99.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024