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 13:51939199 (forward strand)|View in location tab

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

LSDB ATP7B_3557-6C_T_021111

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays