Original source

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

C/G | Ancestral: C | Ambiguity code: S | MAF: < 0.01 (G)

Chromosome 14:77288777 (forward strand) | View in location tab


with HGMD-PUBLIC CM074454 ; PhenCode POMT2:c.1238G>C (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays