Original source

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

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

Chromosome 13:51934853 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM992830

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 19 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 5 citations.

Variant displays