Original source

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

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

Chromosome 14:20474870 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920509 ; PhenCode NPbase_D0064:g.6461A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4319, 2010_April_001_035_NP_164050_0003

HGVS names

This variant has 14 HGVS names - Show

About this variant

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

Variant displays