Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: < 0.01 (G)
Location

Chromosome 16:23348844 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055537

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2544 sample genotypes and is associated with 3 phenotypes.

Variant displays