Original source

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

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

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

Co-located

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 - click the plus to show

This variant has 14 HGVS names - click the plus to show

About this variant

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

Variant displays