NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His) AND NIPBL-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003414377.4
Allele description [Variation Report for NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)]
NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)
Condition(s)
- Name:
- NIPBL-related disorder
- Synonyms:
- NIPBL-related condition
- Identifiers:
-
n4bp1 nedd4 binding protein 1 [Danio rerio]
n4bp1 nedd4 binding protein 1 [Danio rerio]Gene ID:327327Gene
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Last Updated: May 19, 2024