rs121908601
This is a variant in the ZFPM2 gene that changes a glutamate to an glycine.
▶ClinVar annotation
46,XY sex reversal 3; 46,XY sex reversal 9 (SRXY9); Diaphragmatic hernia 3 (DIH3); Double outlet right ventricle (DORV); Tetralogy of Fallot (TOF); ZFPM2-related disorder; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Disease variants in genomes of 44 centenariansCase reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics & Genomic Medicine
Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.
About ZFPM2
The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
View all ZFPM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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