Original source

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

C/G/T | Ancestral: C | Ambiguity code: B

Chromosome 2:74378067 (forward strand) | View in location tab


with HGMD-PUBLIC CM090398, CM090397

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 58 HGVS names - click the plus to show

About this variant

This variant overlaps 38 transcripts and is associated with 3 phenotypes.

Variation displays