Original source

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

Alleles
C/T|Ambiguity code: Y
Location

Chromosome Y:2787395 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM098079, CM930696

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_011_SRY_480000_0013, 8618

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787395C>T
ENST00000383070.1:c.209G>A
ENSP00000372547.1:p.Trp70Ter

About this variant

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

Variant displays