Original source

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

G/T | Ancestral: G | Ambiguity code: K | MAF: 0.03 (T)

Chromosome 14:77320521 (forward strand) | View in location tab


with PhenCode POMT2:c.161C>A (G/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_022083

This variant has 6 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5, HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 21 transcripts, 1 regulatory feature, has 2662 sample genotypes and is associated with 2 phenotypes.

Variant displays