Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/C | Ancestral: G | Ambiguity code: S | MAF: 0.06 (C)

Chromosome 3:8745503 (forward strand) | View in location tab


with PhenCode CAV3:c.115-23G>C (G/C)

Most severe consequence
Intron variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, has 2507 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays