NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs) AND Cornelia de Lange syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001227884.6
Allele description [Variation Report for NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)]
NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs)
Condition(s)
-
MAG: PDZ domain-containing protein [Phormidium sp. PBR-2020]
MAG: PDZ domain-containing protein [Phormidium sp. PBR-2020]gi|2108686043|gnl|PRJNA377096|JWS08 5|gb|UCJ14501.1|Protein
-
tim-1 Protein timeless homolog [Caenorhabditis elegans]
tim-1 Protein timeless homolog [Caenorhabditis elegans]Gene ID:176652Gene
-
176652[uid] AND (alive[prop]) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024