Original source

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

C/A/T | Ancestral: C | Ambiguity code: H

Chromosome 14:23429278 (forward strand) | View in location tab


with HGMD-PUBLIC CM930503, CM900168 ; PhenCode FHC0117 (C/T), FHC0119 (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

About this variant

This variant overlaps 4 transcripts and is associated with 7 phenotypes.

Variant displays