Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome X:18564496 (forward strand) | View in location tab

Co-located

with COSMIC COSM1118772 (C/T) ; 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

This variant has 13 HGVS names - click the plus to show

About this variant

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

Variant displays