Original source

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

T/G | Ancestral: T | Ambiguity code: K

Chromosome 6:118559037 (forward strand) | View in location tab


with HGMD-PUBLIC CM030697

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 2010_April_001_110_PLN_172405_0002, 4666

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 6 phenotypes.

Variant displays