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NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) AND Neonatal severe hyperparathyroidism

Significance: Benign
ClinVar: RCV000312165

Variant: NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)

Type: Variant
Allele: NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) 195232
Gene:
Type: single nucleotide variant
Location: Chr3: 122003769 - assembly GRCh37
Chr3: 122284922 - assembly GRCh38
References: dbSNP: 1042636
Illumina Clinical Services Laboratory,Illumina: 33027

Condition

Disease: Neonatal severe hyperparathyroidism