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NM_000388.3(CASR):c.2955C>T (p.Asn985=) AND Neonatal severe hyperparathyroidism

Significance: Uncertain significance
ClinVar: RCV000291642

Variant: NM_000388.3(CASR):c.2955C>T (p.Asn985=)

Type: Variant
Allele: NM_000388.3(CASR):c.2955C>T (p.Asn985=) 292035
Gene:
Type: single nucleotide variant
Location: Chr3: 122003756 - assembly GRCh37
Chr3: 122284909 - assembly GRCh38
References: dbSNP: 199884115

Condition

Disease: Neonatal severe hyperparathyroidism