NM_006580.3(CLDN16):c.-155C>T 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:
- RCV001148668.13
Allele description [Variation Report for NM_006580.3(CLDN16):c.-155C>T]
NM_006580.3(CLDN16):c.-155C>T
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
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Related Structures (List) for Protein (Select 211997623) (6)
Structure
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Chromosome neighbors for GEO Profiles (Select 132489415) (18)
GEO Profiles
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GEO Profile Links for Gene (Select 851407) (127)
GEO Profiles
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Gene Links for GEO Profiles (Select 132495472) (1)
Gene
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RAD51D RAD51 paralog D [Homo sapiens]
RAD51D RAD51 paralog D [Homo sapiens]Gene ID:5892Gene
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Last Updated: Oct 13, 2024