Original source

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

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

Chromosome 16:88646131 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM960428 ; PhenCode CYBAbase_D0024:g.5911C>A (G/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 32 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, has 2504 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays