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

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

Chromosome 17:43115745 (forward strand) | View in location tab


with HGMD-PUBLIC CM087249, CM040687, CM041683

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB SCV000075380, U14680.1:c.115T>C, U14680.1:c.115T>A

This variant has 120 HGVS names - click the plus to show

About this variant

This variant overlaps 66 transcripts and is associated with 5 phenotypes.

Variant displays