NM_000388.4(CASR):c.2915C>T (p.Thr972Met) AND Neonatal severe primary hyperparathyroidism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000345436.12
Allele description [Variation Report for NM_000388.4(CASR):c.2915C>T (p.Thr972Met)]
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
Condition(s)
-
Homo sapiens kelch-like 3 (Drosophila), mRNA (cDNA clone IMAGE:5300647), complet...
Homo sapiens kelch-like 3 (Drosophila), mRNA (cDNA clone IMAGE:5300647), complete cdsgi|28374149|gb|BC045683.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024