Original source

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

A/G/T | Ancestral: A | Ambiguity code: D | MAF: < 0.01 (G)

Chromosome 2:219421494 (forward strand) | View in location tab


with HGMD-PUBLIC CM980539 ; PhenCode DES:c.1178A>T (A/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB DES:c.[1078G>C; 1178A>T], 1536

This variant has 16 HGVS names - click the plus to show

About this variant

This variant overlaps 12 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays