NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003605068.1
Allele description [Variation Report for NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)]
NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg)
Condition(s)
-
Astrangia californica[orgn] (0)
Genome
-
W3<,>opopop (73)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024