NM_002266.4(KPNA2):c.1201G>A (p.Val401Met) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004412034.1
Allele description [Variation Report for NM_002266.4(KPNA2):c.1201G>A (p.Val401Met)]
NM_002266.4(KPNA2):c.1201G>A (p.Val401Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=Nuclear receptor ROR-beta; AltName: Full=Nuclear receptor RZR-beta...
RecName: Full=Nuclear receptor ROR-beta; AltName: Full=Nuclear receptor RZR-beta; AltName: Full=Nuclear receptor subfamily 1 group F member 2; AltName: Full=Retinoid-related orphan receptor-betagi|124028631|sp|Q8R1B8.3|RORB_MOUSEProtein
-
txid1805291[Organism] (4018)
Protein
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Last Updated: May 26, 2024