NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496307.1
Allele description [Variation Report for NM_000388.4(CASR):c.554G>A (p.Arg185Gln)]
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
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
-
txid130930[Organism] (1)
SRA
-
PREDICTED: Rattus norvegicus bradykinin receptor B1 (Bdkrb1), transcript variant...
PREDICTED: Rattus norvegicus bradykinin receptor B1 (Bdkrb1), transcript variant X1, mRNAgi|2678953482|ref|XM_008764861.4|Nucleotide
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Last Updated: Sep 16, 2024