NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) AND Cornelia de Lange syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002525957.3
Allele description [Variation Report for NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)]
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu)
Condition(s)
-
KH domain-containing protein 3 isoform 1 [Mus musculus]
KH domain-containing protein 3 isoform 1 [Mus musculus]gi|33468985|ref|NP_080166.1|Protein
-
RNA, Transfer, Amino Acid-Specific
RNA, Transfer, Amino Acid-SpecificA group of transfer RNAs which are specific for carrying each one of the 20 amino acids to the ribosome in preparation for protein synthesis.<br/>Year introduced: 1988MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024