Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 3:8745725 (forward strand) | View in location tab


with HGMD-PUBLIC CM980307 ; PhenCode CAV3:c.314C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

About this variant

This variant overlaps 7 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variation displays