GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) AND Autistic disorder of childhood onset

Significance: Uncertain significance
ClinVar: RCV000133325

Variant: NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)

Type: Variant
Allele: NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) 153510
Gene:
Type: single nucleotide variant
Location: ChrX: 18604447 - assembly GRCh38
ChrX: 18622567 - assembly GRCh37
References: dbSNP: 201893287
RettBASE (CDKL5): 121

Condition

Disease: Autistic disorder of childhood onset