Original source

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

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

Chromosome X:18628374 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM062500 ; PhenCode RettBASE_CDKL5:c.2500C>T (C/T), RettBASE_c.2500C>T (C/T)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB c.2500C>T, 6908, CDKL5: c.2500C>T

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays