Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 14:20474555 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870015 ; PhenCode NPbase_D0064:g.6146G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_033_NP_164050_0001, 4317

This variant has 15 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays