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Table 3 Four rare homozygous variants on chromosome 4

From: Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

Gene Symbol Position Variation Type Transcript Variant Protein Variant SIFT Function Prediction PolyPhen-2 Function Prediction Classification
KIAA1211 57180473 Deletion c.805delC p.L269fsX13    Uncertain Significance
MMRN1 90855967 SNV c.1136A > T p.K379I Damaging Possibly Damaging Uncertain Significance
SLC25A31 128665845 SNV c.251G > A p.R84H Damaging Possibly Damaging Uncertain Significance
NPY5R 164272419 Deletion c.997delG p.V333fsX7    Uncertain Significance