Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (T)

Chromosome X:32816565 (forward strand) | View in location tab


with HGMD-PUBLIC CM940337, CD951679 ; PhenCode DMD:c.433C>T (G/A), DMD:c.433delC (G/-)

Most severe consequence
Evidence status

Clinical significance


LSDB 7147

This variation has 30 HGVS names - click the plus to show

About this variant

This variant overlaps 22 transcripts, has 1092 individual genotypes and is associated with 3 phenotypes.

Variation displays