Original source

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

Alleles
C/T | Ambiguity code: Y
Location

Chromosome Y:2787267 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930700

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_007_SRY_480000_0009, 8614

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

Y:g.2787267C>T
ENST00000383070.1:c.337G>A
ENSP00000372547.1:p.Ala113Thr

About this variant

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

Variant displays