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NM_000388.4(CASR):c.-154T>A AND Neonatal severe hyperparathyroidism

Significance: Uncertain significance
ClinVar: RCV000266252

Variant: NM_000388.4(CASR):c.-154T>A

Type: Variant
Allele: NM_000388.4(CASR):c.-154T>A 292139
Gene:
Type: single nucleotide variant
Location: Chr3: 121972883 - assembly GRCh37
Chr3: 122254036 - assembly GRCh38
References: dbSNP: 186365367
Illumina Clinical Services Laboratory,Illumina: 753024

Condition

Disease: Neonatal severe hyperparathyroidism