Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (T)

Chromosome 5:132385435 (forward strand) | View in location tab


with HGMD-PUBLIC CM022066

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 11848

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays