Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome X:37799011 (forward strand) | View in location tab


with HGMD-PUBLIC CM950329, CM910101 ; PhenCode CYBBbase_D0025:g.19944G>C (G/C), CYBBbase_D0025:g.19944G>A (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts, is associated with 5 phenotypes and is mentioned in 2 citations.

Variation displays