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 19:55154146 (forward strand) | View in location tab


with COSMIC COSM475295 (G/A) ; HGMD-PUBLIC CM030285, CM971498 ; PhenCode FHC0405 (G/A), FHC0407 (G/C)

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 22 HGVS names - click the plus to show

About this variant

This variant overlaps 58 transcripts and is associated with 6 phenotypes.

Variation displays