Original source

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

A/G|Ambiguity code: R|MAF: < 0.01 (G)

Chromosome X:18564539 (forward strand)|View in location tab

Co-located variant

PhenCode RettBASE_c.145+17A>G (A/G)

Most severe consequence
Intron variant
Evidence status

Clinical significance


LSDB 145+17A>G

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays