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 14:23433656 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM962617 ; PhenCode FHC0099 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_004566

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 5 phenotypes.

Variant displays