Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 4:186196075 (forward strand) | View in location tab


with HGMD-PUBLIC CM041499

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB NM_207352.3:c.400G>T

This variant has 3 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts and is associated with 1 phenotype.

Variant displays