Original source

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

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

Chromosome 2:15945880 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM056656

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_090_MYCN_164840_0001, 4415

HGVS names

This variant has 3 HGVS names - Hide

2:g.15945880G>A
ENST00000281043.3:c.1178G>A
ENSP00000281043.3:p.Arg393His

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays