Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:48963475 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031989

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

About this variant

This variant overlaps 4 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variation displays