NM_002085.5(GPX4):c.502-1del AND Spondylometaphyseal dysplasia, Sedaghatian type
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Jun 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001844185.5
Allele description [Variation Report for NM_002085.5(GPX4):c.502-1del]
NM_002085.5(GPX4):c.502-1del
Condition(s)
-
Chain A, Mineralocorticoid receptor
Chain A, Mineralocorticoid receptorgi|67463901|pdb|1Y9R|AProtein
-
Anorectal Infection
Anorectal InfectionMedGen
-
Mimosa xanthocentra (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024