Original source

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

Alleles
G/C|Ambiguity code: S
Location

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

Co-located variant

HGMD-PUBLIC CM920647

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8611, 2010_April_001_005_SRY_480000_0006

HGVS names

This variant has 3 HGVS names - Hide

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