Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: < 0.01 (A)

Chromosome 12:106432421 (forward strand) | View in location tab


with HGMD-PUBLIC CM119256

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_018082.5:c.1568T>A

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays