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 4:41747479 (forward strand)|View in location tab

Co-located variants

COSMIC COSM188142 ; HGMD-PUBLIC CM041818

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12214, 2010_April_001_051_PHOX2B_603851_0005

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays