Original source

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

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

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

Co-located

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

Most severe consequence
 
Intron variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to 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 2 phenotypes.

Variant displays