Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

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

Co-located

with HGMD-PUBLIC CM012308, CM010004

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variation displays