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NM_000388.3(CASR):c.680G>T (p.Arg227Leu) AND Neonatal severe hyperparathyroidism

Significance: Pathogenic
ClinVar: RCV000008818

Variant: NM_000388.3(CASR):c.680G>T (p.Arg227Leu)

Type: Variant
Allele: NM_000388.3(CASR):c.680G>T (p.Arg227Leu) 23356
Gene:
Type: single nucleotide variant
Location: Chr3: 121980562 - assembly GRCh37
Chr3: 122261715 - assembly GRCh38
References: dbSNP: 28936684
OMIM: 601199.0006

Condition

Disease: Neonatal severe hyperparathyroidism

Citations

    Wystrychowski et al. (2005) performed a functional analysis comparing the R227L and R227Q mutations (see 601199.0049).
PMID:15572418
    In a sporadic case of neonatal hyperparathyroidism (NSHPT; 239200), Pearce et al. (1995) found a heterozygous CGA-to-CTA transversion in codon 227 of exon 4, resulting in an amino acid substitution of leucine for arginine (R227L).
PMID:8675635