Original source

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

Alleles
A/T|Ambiguity code: W
Location

Chromosome Y:2787592 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD991879, CM971421

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_014_SRY_480000_0018, 8623

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787592A>T
ENST00000383070.1:c.12T>A
ENSP00000372547.1:p.Tyr4Ter

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays