This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 18:51065548 (forward strand) | View in location tab


with COSMIC COSM14140 (C/T), COSM14151 (C/A), COSM1158192 (C/G) ; HGMD-PUBLIC CM981228, CM041789, CM040450

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 42 HGVS names - Show

About this variant

This variant overlaps 27 transcripts, is associated with 8 phenotypes and is mentioned in 6 citations.

Variant displays