Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


with HGMD-PUBLIC CM068018, CM054789

Most severe consequence
Evidence status


Uniprot VAR_042809

This variation has 12 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 individual genotypes and is associated with 1 phenotype.

Variation displays