Original source

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

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance


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