Original source

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

C/T | Ancestral: C | Ambiguity code: Y

Chromosome 5:148120063 (forward strand) | View in location tab


with HGMD-PUBLIC CM001400 ; PhenCode SPINK5base_D0080:g.57019C>T (C/T)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 12921

This variant has 12 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays