GENETIC ENCYCLOPEDIA
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NM_000388.4(CASR):c.930C>T (p.Tyr310=) AND Neonatal severe hyperparathyroidism

Significance: Likely benign
ClinVar: RCV000368865

Variant: NM_000388.4(CASR):c.930C>T (p.Tyr310=)

Type: Variant
Allele: NM_000388.4(CASR):c.930C>T (p.Tyr310=) 292170
Gene:
Type: single nucleotide variant
Location: Chr3: 121980812 - assembly GRCh37
Chr3: 122261965 - assembly GRCh38
References: dbSNP: 201737357
Illumina Clinical Services Laboratory,Illumina: 759529

Condition

Disease: Neonatal severe hyperparathyroidism