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 5:151822915 (forward strand) | View in location tab


with HGMD-PUBLIC CM012968

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_000171.3:c.1108G>A

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays