Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 20:34292375 (forward strand)|View in location tab

Co-located variants

COSMIC COSM2757996 ; HGMD-PUBLIC CM045449

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5341

HGVS names

This variant has 7 HGVS names - Hide

20:g.34292375T>C
ENST00000468908.1:n.591A>G
ENST00000217426.6:c.428A>G
ENSP00000217426.2:p.Tyr143Cys
ENST00000480653.5:n.475A>G
ENST00000538132.1:c.344A>G
ENSP00000442820.1:p.Tyr115Cys

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays