This variant has been flagged

None of the variant alleles match the reference allele (G)

Original source

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

C/T | Ancestral: G | Ambiguity code: Y
Note: The reference base for this variant (C) does not match the Ensembl reference base (G) at this location.

Chromosome 3:58428084 (forward strand) | View in location tab


with HGMD-PUBLIC CM041817

Most severe consequence
Missense variant
Evidence status


This variant has 4 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 40 transcripts and is associated with 2 phenotypes.

Variant displays