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 4:6302130 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM013444

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_032966

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 5 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays