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Table 2 List of variants in MATN3 in family

From: A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report

 

Variant

Variant classification

Father II.1

c.447C > T,

p.(=)

Benign

c.615G > A,

p.(=)

Benign

Mother II. 6

–

 

Brother III.1

c.447C > T, p.(=)

Benign

c.615G > A, p(=)

Benign

Patient III.2

c.447C > T, p. (=)

Benign

c.615G > A, p.(=)

Benign

 

c.572C > A, p.A191D

Pathogenic

  1. (−): No variant was detected
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BMC Musculoskeletal Disorders

ISSN: 1471-2474

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