Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 17:43115929 (forward strand) | View in location tab

Most severe consequence
Intron variant
Evidence status

Clinical significance


LSDB U14680.1:c.81-150G>A

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays