Original source

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

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

Chromosome 3:93892993 (forward strand)|View in location tab

Co-located variant

COSMIC COSM4942761

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB PS-HY8

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

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

Variant displays