Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 2:15945879 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM112714, CM056658

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4416, 2010_April_001_091_MYCN_164840_0002

HGVS names

This variant has 3 HGVS names - Hide

2:g.15945879C>A
ENST00000281043.3:c.1177C>A
ENSP00000281043.3:p.Arg393Ser

About this variant

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

Variant displays