Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 4:154565832 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023622

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 1964

This variant has 9 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays