Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)

Chromosome 16:47515562 (forward strand) | View in location tab


with HGMD-PUBLIC CM074412

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_000293.2:c.555G>T

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays