Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 5:41862656 (forward strand)|View in location tab

Co-located variant

COSMIC COSM1739126

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

5:g.41862656G>A
ENST00000196371.9:c.173C>T
ENSP00000196371.5:p.Thr58Met

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

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

Variant displays