KEGG   VARIANT: 5741v1Help
Entry
5741v1                      Variant                                

Name
PTH mutation
Gene
PTH  parathyroid hormone [KO:K05261]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation S23P
ClinVar: 13758
dbSNP: rs104894272
Variation
mutation C18R
ClinVar: 13756
dbSNP: rs104894271
Network
nt06318  CaSR-PTH signaling
  Element
N00296  Mutation-inactivated PTH to degradation
Reference
PMID:2212001
  Authors
Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM
  Title
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
  Journal
J Clin Invest 86:1084-7 (1990)
DOI:10.1172/JCI114811
Reference
  Authors
Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S
  Title
A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
  Journal
J Clin Endocrinol Metab 84:3792-6 (1999)
DOI:10.1210/jcem.84.10.6070
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