Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 15:66436843 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4808464 ; HGMD-PUBLIC CM061104

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4944

HGVS names

This variant has 7 HGVS names - Hide

15:g.66436843A>G
ENST00000425818.2:n.900A>G
ENST00000307102.9:c.389A>G
ENSP00000302486.4:p.Tyr130Cys
LRG_725:g.54971A>G
LRG_725t1:c.389A>G
LRG_725p1:p.Tyr130Cys

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays