Original source

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

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

Chromosome 16:3243310 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970914

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 42 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 32 transcripts, has 2543 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays