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Table 1 Several online databases used to predict the pathogenicity of p.(Leu212fs) in the family

From: Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

Gene

NM

Exon

Alternation

dbSNP

MutationTaster

ENTPRISE-X

Provean

Polyphen

EXAC

1 k Genome

Iranome

ADPRHL2

NM_017825.2

4

c.636_639del; p.(Leu212fs)

NR

D

D

NA

D

N.R

N.R

N.R

  1. N.R Not-Reported, NA Not Applicable, D Damaging
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BMC Neurology

ISSN: 1471-2377

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