Original source

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

Alleles
G/A|Ambiguity code: R
Location

Chromosome Y:2787600 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM981858

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_016_SRY_480000_0020, 8625

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787600G>A
ENST00000383070.1:c.4C>T
ENSP00000372547.1:p.Gln2Ter

About this variant

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

Variant displays