Original source

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

Alleles
A/C/G | Ancestral: A | Ambiguity code: V
Location

Chromosome 17:43124095 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014520, CM041678

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB U14680.1:c.2T>G, U14680.1:c.2T>C

This variation has 84 HGVS names - click the plus to show

About this variant

This variant overlaps 52 transcripts and is associated with 4 phenotypes.

Variation displays