Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM061104

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4944

This variation has 7 HGVS names - click the plus to show

15:g.66436843A>G
ENST00000425818.2:n.900A>G
ENST00000307102.8: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 1 phenotype.

Variation displays