Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 14:20475175 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961049 ; PhenCode NPbase_D0064:g.6766A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_038_NP_164050_0006, 4322

This variant has 9 HGVS names - click the plus to show

14:g.20475175A>G
ENST00000554678.1:n.187-81T>C
ENST00000554056.5:n.883A>G
ENST00000361505.9:c.575A>G
ENSP00000354532.5:p.Tyr192Cys
ENST00000556754.1:n.1792A>G
LRG_91:g.10793A>G
LRG_91t1:c.575A>G
LRG_91p1:p.Tyr192Cys

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays