ESRP2 Chromosome 16

Epithelial splicing regulatory protein 2
2 variants 2 Health Risk

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What This Gene Does
ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
Gene Info
Gene Group
"RNA binding motif containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000103067
Associated Conditions (1)
Cleft lip with or without cleft palate
Key Variants
RS142168544
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
RS751873605
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS142168544 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS751873605 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
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