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 4:154565832 (forward strand) | View in location tab


with HGMD-PUBLIC CM023622

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 1964

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays