NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro) AND Cornelia de Lange syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003498863.2
Allele description [Variation Report for NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)]
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
Condition(s)
-
Concise Conserved Domain Links for Protein (Select 306991837) (1)
Conserved Domains
-
Fibroblast growth factor 2 restimulation effect on embryonic fibroblast
Fibroblast growth factor 2 restimulation effect on embryonic fibroblastAccession: GDS2422GEO DataSets
-
Related DataSets for GEO Profiles (Select 32238776) (1)
GEO DataSets
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024