Original source

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

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome X:18584324 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM042956 ; PhenCode RettBASE_CDKL5:c.525A>T (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB CDKL5: c.525A>T, 6905

HGVS names

This variant has 9 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 3 phenotypes.

Variant displays