Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome X:31178784 (forward strand) | View in location tab


with COSMIC COSM3424730 (G/A), COSM3424728 (G/A), COSM3424729 (G/A), COSM3424733 (G/A), COSM3424732 (G/A), COSM3424731 (G/A) ; HGMD-PUBLIC CS921169, CM084898 ; PhenCode DMD:c.10108C>T (G/A)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 7122, 2010_April_001_071_DMD_300377_0007

HGVS names

This variant has 35 HGVS names - Show

About this variant

This variant overlaps 17 transcripts and is associated with 4 phenotypes.

Variant displays