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Table 1 The PLXND1 gene variants identified in this patient. RSID: Reference Single Nucleotide Polymorphisms Cluster Identification; PLXND1: Plexin D-1; het: heterozygous; LBEN: Likely benign; VUS: variant of uncertain significance

From: Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

Gene

Zygosity

Annotations

Type

Position

RSID

gnomAD

Provean

Classification

PLXND1

het

NM_015103.2:ex27:

c.4677C > T

p.N1559N

synonymous

chr3:129,281,778

rs767882412

0.000112

 

LBEN

PLXND1

het

NM_015103.2:ex14:

c.2890G > A

p.V964M

missense

chr3:129,291,732

rs553781761

8.38E-05

-2.14

VUS

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BMC Pediatrics

ISSN: 1471-2431

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