Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 14:30889763 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053812, CM081215

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 22 HGVS names - click the plus to show

About this variant

This variant overlaps 24 transcripts and is associated with 4 phenotypes.

Variant displays