Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM074412

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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