This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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 CM040450, CM041789, CM981228

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 42 HGVS names - click the plus to show

About this variant

This variant overlaps 27 transcripts, is associated with 9 phenotypes and is mentioned in 6 citations.

Variant displays