Original source

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

G/A|Ancestral: G|Ambiguity code: R

Chromosome 5:1278750 (forward strand)|View in location tab

Co-located variants

COSMIC COSM299794, COSM299795 ; HGMD-PUBLIC CM066607

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_198253.2:c.2177C>T

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts and is associated with 1 phenotype.

Variant displays