Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

with HGMD-PUBLIC CM062500 ; PhenCode RettBASE_CDKL5:c.2500C>T (C/T), RettBASE_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 7 HGVS names - click the plus to show

Variation displays