Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 16 HGVS names - Show

About this variant

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

Variant displays