Original source

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

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

Chromosome 12:13562998 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NC_000012.11:g.13715932C>A

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

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

Variant displays