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

Chromosome 16:56869762 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM001789, CD116991

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_039487

HGVS names

This variant has 27 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 15 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays