Original source

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

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

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

Co-located

with COSMIC COSM188142 (C/T) ; HGMD-PUBLIC CM041818

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 12214, 2010_April_001_051_PHOX2B_603851_0005

This variant has 7 HGVS names - click the plus to show

About this variant

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

Variant displays