Original source

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

C/A | Ancestral: C | Ambiguity code: M

Chromosome X:18579749 (forward strand) | View in location tab


with PhenCode RettBASE_CDKL5:c.283-99C>A (C/A)

Most severe consequence
Intron variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 6 transcripts, has 1255 sample genotypes and is associated with 1 phenotype.

Variant displays