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 11:72243790 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM013244

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_250_PHOX2A_602753_0003, 11442

HGVS names

This variant has 4 HGVS names - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays