This variant has been flagged

Variation has more than 3 different alleles

Original source

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

Alleles
C/A/G/T | Ancestral: C | Ambiguity code: N
Location

Chromosome 2:43823981 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012308, CM010004

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 21 HGVS names - click the plus to show

About this variant

This variant overlaps 12 transcripts and is associated with 4 phenotypes.

Variant displays