Original source

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

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

Chromosome X:31178751 (forward strand) | View in location tab


with COSMIC COSM1203826 (G/A), COSM1203824 (G/A), COSM1203825 (G/A), COSM1203829 (G/A), COSM1203828 (G/A), COSM1203827 (G/A) ; HGMD-PUBLIC CM930196 ; PhenCode DMD:c.10141C>T (G/A)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 2010_April_001_078_DMD_300377_0067, 7182

This variant has 35 HGVS names - click the plus to show

About this variant

This variant overlaps 17 transcripts and is associated with 3 phenotypes.

Variant displays