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:18564496 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1118772 ; HGMD-PUBLIC CM081207 ; PhenCode RettBASE_CDKL5:c.119C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6910, CDKL5: c.119C>T

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays