NM_000388.4(CASR):c.2687G>A (p.Arg896His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480419.8
Allele description [Variation Report for NM_000388.4(CASR):c.2687G>A (p.Arg896His)]
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
Condition(s)
- Name:
- Familial hypocalciuric hypercalcemia 1
- Synonyms:
- Hypercalcemia, familial benign type 1
- Identifiers:
- MONDO: MONDO:0007791; MedGen: C0342637; Orphanet: 405; Orphanet: 93372; OMIM: 145980
- Name:
- Neonatal severe primary hyperparathyroidism
- Synonyms:
- Neonatal severe hyperparathyroidism
- Identifiers:
- MONDO: MONDO:0009397; MedGen: C1832615; Orphanet: 417; OMIM: 239200
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MAG: Proteobacteria bacterium SG_bin4, whole genome shotgun sequencing project
MAG: Proteobacteria bacterium SG_bin4, whole genome shotgun sequencing projectgi|1175923046|gb|LWDH00000000.1|LWD 0000Nucleotide
-
Lactobacillus iners LactinV 09V1-c, whole genome shotgun sequencing project
Lactobacillus iners LactinV 09V1-c, whole genome shotgun sequencing projectgi|308166264|gb|AEHO00000000.1|AEHO 000Nucleotide
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Last Updated: Nov 3, 2024