Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 1:226895548 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014082

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 11 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts and is associated with 3 phenotypes.

Variant displays