Original source

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

Alleles
T/A|Ambiguity code: W
Location

Chromosome Y:2787224 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941304, CM021699

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_019_SRY_480000_0023, 8628

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787224T>A
ENST00000383070.1:c.380A>T
ENSP00000372547.1:p.Tyr127Phe

About this variant

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

Variant displays