Gene Mutation Browser

Gene

Gene Omim Number

Disease Omim Number

Chromosome Location

Gene Mutation

Allelic Variant

Omim Phenotype

Sample Count

CDKL5

Xp22

c.1412delA

Developmental and epileptic encephalopathy 2

CDKL5

Xp22

c.1648C>T

Developmental and epileptic encephalopathy 2

CDKL5

Xp22

c.1886T>A

Developmental and epileptic encephalopathy 2

CDKL5

Xp22

c.2152G>A

Developmental and epileptic encephalopathy 2

CDKL5

Xp22

DEL EX 17-18

CDKL5

Xp22

SER557TER

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

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