Original source

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

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

Chromosome 2:219425727 (forward strand) | View in location tab


with HGMD-PUBLIC CM000369 ; PhenCode HIFD_DES:c.1353C>G (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays