This variation 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

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 42 HGVS names - click the plus to show

About this variant

This variant overlaps 33 transcripts, has 2504 individual genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variation displays