Original source

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

Alleles
A/C|Ambiguity code: M
Location

Chromosome 12:52303146 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_KRT86:c.416A>C (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts and is associated with 1 phenotype.

Variant displays