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 14:20475175 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961049 ; PhenCode NPbase_D0064:g.6766A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_038_NP_164050_0006, 4322

HGVS names

This variant has 9 HGVS names - Show

About this variant

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

Variant displays