Table 1 Families with pathogenic NEB TRI CNVs.

From: Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

  

NEB TRI CNV

2nd pathogenic NEB variant

Fam

Class

CN

Mat. allele CN

Pat. allele CN

Pub.

Exon

cDNA

Protein change

Allele

Pub.

F1

3

11

7p

4

U

3

c.82del

p.(Ile28*)

Pat

U

F2

0

10

7 p

3

(6)

17i

c.1569+1G>A

p.(spl)

Pat

U

F3

3

10

7 p

3

(6)

28

c.2784del

p.(Asp929Ilefs*28)

Pat

(6,25)

F4

2

14

11 p

3

U

59i

c.8256+1G>A

p.(spl)

Pat

U

F5

0

10

N/A

N/A

(6)

61i

c.8685+1G>A

p.(spl)

N/A

(6,19)

F6

2

9

6 p

3

(6)

78

c.11771_11788del

p.(Val3924_Asn3929del)

Pat

(6,25)

F7

2

10

3

7 p

(6)

81

c.12048_12049del

p.(Lys4017Argfs*10)

Mat

(6)

F8

2

10

7 p

3

U

127

c.19712_19716delinsGAG

p.(Ala6571Glyfs*5)

Pat

U

F9

2

10

N/A

N/A

U

158

c.22936C>T

p.(Arg7646*)

N/A

U

F10

1

9

3

6 p

(6)

134

c.20446del

p.(Arg6816Glyfs*38)

Mat

(6,19)

F11

2

9

3

6 p

(6)

180

c.25206T>A

p.(Tyr8402*)

Mat

U

F12

2

14

7 p

7 p

U

  

U

  1. The complete variant details and additional information are available in Supplementary Table 4.
  2. Fam Family, Class 0: Unclassified/not known, 1: Mild, 2: Typical, 3: Severe, CN Copy number, p Pathogenic allele, Mat Maternal, Pat Paternal, i intron, Pub. Published in, U Previously unpublished.
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