Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome X:18584332 (forward strand) | View in location tab


with HGMD-PUBLIC CM085313 ; PhenCode RettBASE_CDKL5:c.533G>C (G/C), RettBASE_CDKL5:c.533G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts and is associated with 4 phenotypes.

Variant displays