Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM013244

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_250_PHOX2A_602753_0003, 11442

This variant has 4 HGVS names - click the plus to show

About this variant

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

Variant displays