NM_024529.5(CDC73):c.132-17T>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494418.1
Allele description [Variation Report for NM_024529.5(CDC73):c.132-17T>G]
NM_024529.5(CDC73):c.132-17T>G
Condition(s)
- Name:
- Hyperparathyroidism 1 (HRPT1)
- Synonyms:
- HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
- Identifiers:
- MONDO: MONDO:0007767; MedGen: C1840402; Orphanet: 99879; OMIM: 145000
- Name:
- Parathyroid carcinoma (PRTC)
- Synonyms:
- Parathyroid cancer; Parathyroid gland carcinoma; CDC73-Related Parathyroid Carcinoma
- Identifiers:
- MONDO: MONDO:0012004; MedGen: C0687150; Orphanet: 143; OMIM: 608266; Human Phenotype Ontology: HP:0006780
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Homo sapiens delta/notch-like EGF repeat containing, mRNA (cDNA clone MGC:33398 ...
Homo sapiens delta/notch-like EGF repeat containing, mRNA (cDNA clone MGC:33398 IMAGE:4820343), complete cdsgi|23273318|gb|BC035009.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024