Original source

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

Alleles
G/C | Ambiguity code: S
Location

Chromosome Y:2787334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920647

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8611, 2010_April_001_005_SRY_480000_0006

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

Y:g.2787334G>C
ENST00000383070.1:c.270C>G
ENSP00000372547.1:p.Ile90Met

About this variant

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

Variant displays