Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

Chromosome 4:127930800 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM091346

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 16 HGVS names - click the plus to show

About this variant

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

Variant displays