NM_133433.4(NIPBL):c.1753del (p.Ile585fs) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146526.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.1753del (p.Ile585fs)]
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
Condition(s)
-
Tssr131755 AND (alive[prop]) (0)
Gene
-
Homo sapiens chromosome 5 clone RP11-1026M7, complete sequence
Homo sapiens chromosome 5 clone RP11-1026M7, complete sequencegi|29569240|gnl|jgi|1026M7|gb|AC140 |Nucleotide
-
rCG52074 [Rattus norvegicus]
rCG52074 [Rattus norvegicus]gi|149030225|gb|EDL85281.1||gnl|WGS |rCP18004Protein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023