Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome X:18598499 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM085311 ; PhenCode RettBASE_CDKL5:c.863C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays