Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: < 0.01 (A)
Location

Chromosome 4:186208973 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM056577

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_207352.3:c.1199G>A

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays