Original source

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

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

Chromosome X:31177932 (forward strand) | View in location tab


with COSMIC COSM1120069 (G/A), COSM1599236 (G/A), COSM1120067 (G/A), COSM1120072 (G/A), COSM1120071 (G/A), COSM1599237 (G/A) ; HGMD-PUBLIC CM940364 ; PhenCode DMD:c.10262C>T (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_080_DMD_300377_0070, 7185

This variant has 29 HGVS names - click the plus to show

About this variant

This variant overlaps 17 transcripts and is associated with 2 phenotypes.

Variant displays