NM_148960.3(CLDN19):c.-24_47dup (p.Gly17fs) AND Renal hypomagnesemia 5 with ocular involvement
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003990043.1
Allele description [Variation Report for NM_148960.3(CLDN19):c.-24_47dup (p.Gly17fs)]
NM_148960.3(CLDN19):c.-24_47dup (p.Gly17fs)
Condition(s)
- Name:
- Renal hypomagnesemia 5 with ocular involvement
- Synonyms:
- FHHNC WITH SEVERE OCULAR INVOLVEMENT; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT; MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009548; MedGen: C4721891; Orphanet: 2196; OMIM: 248190
-
para-aminobenzoate synthase component II [Klebsiella michiganensis HKOPL1]
para-aminobenzoate synthase component II [Klebsiella michiganensis HKOPL1]gi|612157112|gnl|BCNAU|J415_05230|g 86601.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024