Original source

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

Alleles
A/G|Ambiguity code: R
Location

Chromosome Y:2787401 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920646

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_009_SRY_480000_0011, 8616

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787401A>G
ENST00000383070.1:c.203T>C
ENSP00000372547.1:p.Ile68Thr

About this variant

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

Variant displays