Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 4:41746162 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM061886

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_053_PHOX2B_603851_0008, 12217

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays