NM_000388.4(CASR):c.1283C>T (p.Ala428Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506126.1
Allele description [Variation Report for NM_000388.4(CASR):c.1283C>T (p.Ala428Val)]
NM_000388.4(CASR):c.1283C>T (p.Ala428Val)
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
-
JGI_CAAN12549.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7794524 5'...
JGI_CAAN12549.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone IMAGE:7794524 5', mRNA sequencegi|58719118|gnl|dbEST|27636279|gb|C 60.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024