NM_006580.4(CLDN16):c.*249G>A AND Primary hypomagnesemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000376270.5
Allele description [Variation Report for NM_006580.4(CLDN16):c.*249G>A]
NM_006580.4(CLDN16):c.*249G>A
Condition(s)
- Name:
- Primary hypomagnesemia (HOMG3)
- Synonyms:
- HYPOMAGNESEMIA 3, RENAL; HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM; Magnesium, defect in renal tubular transport of; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009550; MedGen: C0268448; Orphanet: 31043; OMIM: 248250
-
Similar studies for GEO DataSets (Select 200024638) (9)
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txid188119[Organism:noexp] (2)
PMC
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Last Updated: Apr 9, 2023