PhenoModifier-Variant Detail

Variant "RASSF4:c.423C>G(p.Ser141Arg)"

Search result: 1 record

Variant information

Gene:

RASSF4

Variant:

RASSF4:c.423C>G(p.Ser141Arg)

Genomic location:

chr10:45480310(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_032023.3:c.423C>G(p.Ser141Arg)
protein_coding	NM_032023.3:c.423C>G

dbSNP ID:

rs141353468

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Target disease:

Neural Tube Defects, Susceptibility To (OMIM_182940)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Pedigree analysis

Effect:

Contribute to the disease development.

Reference:

PMID28721594

Title:

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Species studied:

Human

Abstract:

Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits.