Original source

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

Alleles
T/A | Ambiguity code: W
Location

Chromosome Y:2787330 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920648

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_012_SRY_480000_0015, 8620

This variant has 3 HGVS names - click the plus to show

Y:g.2787330T>A
ENST00000383070.1:c.274A>T
ENSP00000372547.1:p.Lys92Ter

About this variant

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

Variant displays