This variant has been flagged

Variation has more than 3 different alleles

Original source

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

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

Chromosome 3:46860813 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM014210

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

About this variant

This variant overlaps 12 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays