NM_133433.4(NIPBL):c.2290A>C (p.Asn764His) AND NIPBL-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003397249.4
Allele description [Variation Report for NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)]
NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)
Condition(s)
- Name:
- NIPBL-related disorder
- Synonyms:
- NIPBL-related condition
- Identifiers:
-
MCE-family protein Mce4C [Mycobacterium liflandii 128FXT]
MCE-family protein Mce4C [Mycobacterium liflandii 128FXT]gi|442585529|gnl|MIUM|MULP_05233|gb 4672.1|Protein
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See more...Assertion and evidence details
Last Updated: May 19, 2024