Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 16:74774653 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085398

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16911

This variant has 5 HGVS names - click the plus to show

16:g.74774653C>A
ENST00000567683.5:c.103G>T
ENSP00000455126.1:p.Asp35Tyr
ENST00000219368.7:c.103G>T
ENSP00000219368.3:p.Asp35Tyr

About this variant

This variant overlaps 2 transcripts, 2 regulatory features and is associated with 2 phenotypes.

Variant displays