Original source

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

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

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

Co-located

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 - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays