NM_006580.3(CLDN16):c.-136T>C 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:
- RCV000319167.14
Allele description [Variation Report for NM_006580.3(CLDN16):c.-136T>C]
NM_006580.3(CLDN16):c.-136T>C
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
-
Homo sapiens homeobox C11, mRNA (cDNA clone MGC:4906 IMAGE:3462682), complete cd...
Homo sapiens homeobox C11, mRNA (cDNA clone MGC:4906 IMAGE:3462682), complete cdsgi|16306725|gb|BC001543.1|Nucleotide
-
Mus musculus cDNA, clone:Y1G0134N11, strand:minus, reference:ENSEMBL:Mouse-Trans...
Mus musculus cDNA, clone:Y1G0134N11, strand:minus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000049567, based on BLAT searchgi|56024704|dbj|AK200527.1|Nucleotide
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Last Updated: Oct 13, 2024