PhenoModifier-Variant Detail

Variant "SPINK1:c.101A>G(p.Asn34Ser)"

Search result: 1 record

Variant information

Gene:

SPINK1

Variant:

SPINK1:c.101A>G(p.Asn34Ser)

Genomic location:

chr5:147207678(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_003122.4:c.101A>G(p.Asn34Ser)

dbSNP ID:

rs17107315

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered susceptibility(1)

Detail：

Target disease:

Familial Hypocalciuric Hypercalcemia (DOID_0060699)

Effect type:

Expressivity

Modifier effect:

Altered susceptibility

Evidence:

Pedigree analysis

Effect:

SPINK1 mutations act as disease modifier and suggests an even more complex genetic model in SPINK1 related chronic pancreatitis.

Reference:

PMID14641934

Title:

A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations.

Species studied:

Human

Abstract:

The role of mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in chronic pancreatitis is still a matter of debate. Active SPINK1 is thought to antagonize activated trypsin. Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. However, the inheritance pattern is still unknown. Some cases with N34S heterozygosity have been reported with and without evidence for CP indicating neither an autosomal recessive nor dominant trait. Therefore SPINK1 mutations have been postulated to act as a disease modifier requiring additional mutations in a more complex genetic model. Familial hypocalciuric hypercalcemia (FHH) caused by heterozygous inactivating mutations in the calcium sensing receptor (CASR) gene is considered a benign disorder with elevated plasma calcium levels. Although hypercalcemia represents a risk factor for pancreatitis, increased rates of pancreatitis in patients with FHH have not been reported thus far.