This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N | MAF: < 0.01 (T)

Chromosome 14:23424875 (forward strand) | View in location tab


with HGMD-PUBLIC CM068018, CM054789

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_042809

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays