Original source

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

Alleles
C/G|Ambiguity code: S
Location

Chromosome Y:2787426 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930693

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_003_SRY_480000_0004, 8609

HGVS names

This variant has 3 HGVS names - Hide

Y:g.2787426C>G
ENST00000383070.1:c.178G>C
ENSP00000372547.1:p.Val60Leu

About this variant

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

Variant displays