Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome X:18646494 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

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

This variation has 5 HGVS names - click the plus to show

Variation displays