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Table 2 Type of variant according to the disease-causing gene

From: Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

 

Type of variant

Missense

In-frame indels

Splice-site

Non sense

Frameshift

Large deletion or duplication

Total

ENG* (HHT1)

25 (24.0%)

4 (3.8%)

16 (15.3%)

20 (19.2%)

33 (30.8%)

6 (5.6%)

104

ACVRL1 (HHT2)

112 (45.3%)

4 (1.6%)

19 (7.7%)

25 (10.1%)

85 (34.4%)

2 (0.8%)

247

  1. * 3 ENG variants which affected the initiation codon were excluded because their effect was not demonstrated
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172