NM_000388.4(CASR):c.2506G>T (p.Val836Leu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002477905.1
Allele description [Variation Report for NM_000388.4(CASR):c.2506G>T (p.Val836Leu)]
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
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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Homo sapiens mitogen-activated protein kinase kinase kinase 13, mRNA (cDNA clone...
Homo sapiens mitogen-activated protein kinase kinase kinase 13, mRNA (cDNA clone MGC:133196 IMAGE:40028559), complete cdsgi|84627449|gb|BC111726.1|Nucleotide
-
bifunctional DNA-binding transcriptional regulator/O6-methylguanine-DNA methyltr...
bifunctional DNA-binding transcriptional regulator/O6-methylguanine-DNA methyltransferase Ada [Caballeronia insecticola]gi|511286448|ref|WP_016346715.1|Protein
-
MULTISPECIES: hypothetical protein [Bacillus]
MULTISPECIES: hypothetical protein [Bacillus]gi|446157616|ref|WP_000235471.1|Protein
-
Nepeta teucriifolia isolate btd 1073 pentatricopeptide repeat-containing protein...
Nepeta teucriifolia isolate btd 1073 pentatricopeptide repeat-containing protein gene, partial cdsgi|2544235252|gb|OR199042.1|Nucleotide
-
Arabidopsis thaliana Tetratricopeptide repeat (TPR)-like superfamily protein (AT...
Arabidopsis thaliana Tetratricopeptide repeat (TPR)-like superfamily protein (AT1G27110), mRNAgi|1063678305|ref|NM_001332744.1|Nucleotide
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Last Updated: Jun 9, 2024