Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 2:27309945 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061855

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_002437.4:c.498C>A, 2177

This variation has 20 HGVS names - click the plus to show

About this variant

This variant overlaps 25 transcripts and is associated with 2 phenotypes.

Variation displays