NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 30, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146519.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)]
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)
Condition(s)
-
carboxy terminal-processing peptidase [Pectobacterium parvum]
carboxy terminal-processing peptidase [Pectobacterium parvum]gi|2155131858|gnl|PRJNA781071|LOZ86 5|gb|UFK41196.1|Protein
-
bifunctional acetaldehyde-CoA/alcohol dehydrogenase [Providencia stuartii]
bifunctional acetaldehyde-CoA/alcohol dehydrogenase [Providencia stuartii]gi|2514473324|gnl|PRJNA288601|OI982 5|gb|WIJ74236.1|Protein
-
hcfc1b [Triplophysa rosa]
hcfc1b [Triplophysa rosa]Gene ID:130568077Gene
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Last Updated: Apr 9, 2023