Original source

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

C/A/T | Ambiguity code: H | MAF: < 0.01 (T)

Chromosome 16:28482500 (forward strand) | View in location tab


with HGMD-PUBLIC CM970334, CM003663

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB FINDIS1049, 14570

HGVS names

This variant has 94 HGVS names - Show

About this variant

This variant overlaps 74 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays